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1
Hoermann, Gregor. "Clinical Significance of Clonal Hematopoiesis of Indeterminate Potential in Hematology and Cardiovascular Disease." Diagnostics 12, no. 7 (July 2, 2022): 1613. http://dx.doi.org/10.3390/diagnostics12071613.
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Liquid profiling uses circulating tumor DNA (ctDNA) for minimal invasive tumor mutational profiling from peripheral blood. The presence of somatic mutations in peripheral blood cells without further evidence of a hematologic neoplasm defines clonal hematopoiesis of indeterminate potential (CHIP). CHIP-mutations can be found in the cell-free DNA (cfDNA) of plasma, are a potential cause of false positive results in liquid profiling, and thus limit its usage in screening settings. Various strategies are in place to mitigate the effect of CHIP on the performance of ctDNA assays, but the detection of CHIP also represents a clinically significant incidental finding. The sequelae of CHIP comprise the risk of progression to a hematologic neoplasm including therapy-related myeloid neoplasms. While the hematological risk increases with the co-occurrence of unexplained blood count abnormalities, a number of non-hematologic diseases have independently been associated with CHIP. In particular, CHIP represents a major risk factor for cardiovascular disease such as atherosclerosis or heart failure. The management of CHIP requires an interdisciplinary setting and represents a new topic in the field of cardio-oncology. In the future, the information on CHIP may be taken into account for personalized therapy of cancer patients.
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Shanmugam, Vignesh, Aric Parnes, Elizabeth A. Morgan, and Annette S. Kim. "Clinical Utility of Routine Targeted Next-Generation Sequencing of Peripheral Blood in the Evaluation of Patients with Cytopenias." Blood 132, Supplement 1 (November 29, 2018): 3090. http://dx.doi.org/10.1182/blood-2018-99-117922.
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Abstract Background With the increasing accessibility of next-generation sequencing (NGS), many institutions are incorporating routine mutational profiling to assist in the evaluation of patients with a variety of hematologic disorders, including cytopenias. Such testing can be helpful in distinguishing neoplastic causes of cytopenias from others. Mutation profiling of peripheral blood is a particularly attractive option because of its potential application as a minimally invasive screen for hematologic malignancies, particularly myeloid neoplasms. However, it is not entirely clear how such molecular data can inform hematology practice as there is limited data on the clinical value of routine NGS testing in cytopenic patients. Here we report the clinical utility of peripheral blood screening by targeted NGS testing in a large institutional cohort of patients with cytopenias. Methods After institutional review board approval, we identified all patients presenting with peripheral blood cytopenias over a 30-month period (January 2015 - June 2017) to the Adult Hematology Clinic at Dana-Farber/Brigham and Women's Cancer Center (n=1491). Of these, 244 patients (median age: 66, range: 22-93) underwent testing of a peripheral blood specimen using a custom 95-gene, amplicon-based sequencing panel (Rapid Heme Panel, Kluk et al., 2016) surveying genes recurrently mutated in hematologic malignancies (Table 1). In addition, these patients also received a complete hematologic work-up to determine the cause for the cytopenia(s). All patients with a known history of a hematologic malignancy were excluded. Results Overall, 60 (25%) patients had a pathogenic somatic mutation in at least one of the 95 genes studied (Figure 1). An underlying hematologic malignancy was identified in 26 (44%) of these patients at the time of presentation, most commonly a myeloid neoplasm (19/26; 73%); 11 (18%) had a non-neoplastic etiology of the cytopenia(s); and 23 (38%) had unexplained cytopenia(s) following complete work-up. The most frequently mutated genes in patients with unexplained cytopenias were TET2, SF3B1 and SRSF2. Of the 184 (75%) patients without a pathogenic somatic mutation, 15 (8%) of these patients were found to have an underlying hematologic malignancy at the time of presentation, most commonly a lymphoid neoplasm (11/15; 73%); 84 (46%) had a non-neoplastic etiology of the cytopenia(s); and 85 (46%) had unexplained cytopenia(s) following complete work-up. With a median follow-up of 22 months, two patients with non-clonal unexplained cytopenias went on to develop MDS and splenic marginal zone lymphoma, respectively. Overall, the presence of a pathogenic mutation was strongly associated with the diagnosis of a myeloid neoplasm (RR 11.6, 95% CI 4.5-29.8). Conversely, if no pathogenic mutation were identified, the likelihood of developing a myeloid neoplasm in 2 years was low (5/184; 2.7%). To further investigate the diagnostic utility of peripheral blood mutational profiling as a screening test in predicting the presence of a myeloid neoplasm on bone marrow biopsy, we studied its diagnostic characteristics using bone marrow biopsy diagnosis within a 6-month interval as the gold standard (n=57). The absence of a pathogenic mutation in peripheral blood was highly predictive of absence of a myeloid neoplasm on bone marrow biopsy (NPV 94%, 95% CI 84-99%). The presence of specific mutations in spliceosome genes (SF3B1, SRSF2, U2AF1) and co-mutation patterns involving DNMT3A, TET2 and ASXL1 genes and other genes were predictive of a myeloid neoplasm with positive predictive values of 75% (95% CI 41-93%) and 70% (95% CI 41-88%) respectively. Finally, larger clone sizes (≥20%) and higher numbers of mutations (≥2) were also predictive of a myeloid neoplasm (PPV: 80%, 95% CI 60-90% and 75%, 95% CI 49-90%, respectively). Conclusions In conclusion, mutation profiling of peripheral blood is a valuable minimally invasive test in the diagnostic work-up of the cytopenic patient. After a complete hematologic work-up and in the absence of a pathogenic somatic mutation, the likelihood of developing a myeloid neoplasm in 2 years is very low. Also, the lack of a pathogenic mutation in peripheral blood is highly predictive of the absence of a myeloid neoplasm on a bone marrow biopsy. Finally, certain molecular features (number and type of mutations, clone size) are predictive of a myeloid neoplasm. Disclosures Kim: LabCorp, Inc.: Consultancy; Papgene, Inc: Consultancy; Aushon Biosciences: Consultancy.
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Nguyen, Andy N. D., Jitakshi De, Jacqueline Nguyen, Anthony Padula, and Zhenhong Qu. "A Teaching Database for Diagnosis of Hematologic Neoplasms Using Immunophenotyping by Flow Cytometry." Archives of Pathology & Laboratory Medicine 132, no. 5 (May 1, 2008): 829–37. http://dx.doi.org/10.5858/2008-132-829-atdfdo.
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Abstract Context.—In the diagnosis of lymphomas and leukemias, flow cytometry has been considered an essential addition to morphology and immunohistochemistry. The interpretation of immunophenotyping results by flow cytometry involves pattern recognition of different hematologic neoplasms that may have similar immunologic marker profiles. An important factor that creates difficulty in the interpretation process is the lack of consistency in marker expression for a particular neoplasm. For this reason, a definitive diagnostic pattern is usually not available for each specific neoplasm. Consequently, there is a need for decision support tools to assist pathology trainees in learning flow cytometric diagnosis of leukemia and lymphoma. Objective.—Development of a Web-enabled relational database integrated with decision-making tools for teaching flow cytometric diagnosis of hematologic neoplasms. Design.—This database has a knowledge base containing patterns of 44 markers for 37 hematologic neoplasms. We have obtained immunophenotyping data published in the scientific literature and incorporated them into a mathematical algorithm that is integrated to the database for differential diagnostic purposes. The algorithm takes into account the incidence of positive and negative expression of each marker for each disorder. Results.—Validation of this algorithm was performed using 92 clinical cases accumulated from 2 different medical centers. The database also incorporates the latest World Health Organization classification for hematologic neoplasms. Conclusions.—The algorithm developed in this database shows significant improvement in diagnostic accuracy over our previous database prototype. This Web-based database is proposed to be a useful public resource for teaching pathology trainees flow cytometric diagnosis.
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Funari, Vincent, Wanlong Ma, Maya Thangavelu, Ivan De Dios, and Maher Albitar. "Using Next Generation Sequencing of Peripheral Blood cfDNA As a Clinical Test in Screening for Hematologic Neoplasms." Blood 128, no. 22 (December 2, 2016): 3176. http://dx.doi.org/10.1182/blood.v128.22.3176.3176.
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Abstract Background: The recent advances in molecular techniques and the adaptation of next generation sequencing (NGS) in routine clinical testing increased our ability to use molecular approaches in the diagnosis and classification of most hematologic diseases. Bone marrow aspiration and biopsy remains necessary for initial confirmation of diagnosis of neoplastic processes in bone marrow, but significant literature suggests that screening or monitoring patients by testing peripheral bloodcfDNAmight be a reliable alternative to marrow biopsy and might reduce the need for a painful bone marrow procedure. Here we report the results of routine clinical testing ofcfDNAthat is ordered by practicing hematologist in the context of the presence or the suspicion of the presence of hematologic neoplasm. Methods: A total of 227 peripheral blood samples were submitted for screeningcfDNAfor mutations in a 54 gene focusedMyeloidpanel using NGS sequencing. DNA was extracted from plasma usingNucliSenSEasyMAGautomated platform and then assayed using theTruSightMyeloid Sequencing Panel (Illumina; San Diego, CA) with an average sequencing depth of 10,000X. The average age patients was 71 (18-96) years. The reason for submitting samples wasruling out MDS in 199 and ruling out AML or other hematologic neoplasms in 28 samples. Of these samples, 12 patients had a follow up testing of bone marrow aspiration sample. Results: Of the 227 tested samples (Figure 1), 126 (55%) showed no evidence of mutation in any of the tested genes. Based on our previous data (see ASH abstract by Albitar et al, 2016), this suggested that MDS can be ruled out in these patients and bone marrow biopsy could be avoided and not recommended. In contrast, 101 (45%) had mutations in one or more genes. Twenty-nine (~12.8%) contained a mutation in a single gene with variant allele frequency (VAF) <20% in one gene and were considered not diagnostic for the presence of clinically significant hematologic neoplasm, but follow up was recommended. Of these patients, one had a mutation in JAK2 at VAF of 6% and a second had a mutation in CALR gene at VAF of 7%, which most likely suggest the presence of early evolvingmyeloproliferativeneoplasms. Seventy-four patients (33%) had mutations in two or more genes or in one gene but with VAF≥20% and considered diagnostic for the presence of hematologic neoplasm and bone marrow morphologic evaluation was recommended. The most commonly mutated gene in these patents was TET2, detected in 30 samples, of which 8 also showed a second mutation in TET2, followed by ASXL1, and DNMT3A mutated in 24 and 26 samples, respectively. Samples containing a TET2 mutation were more likely to have a second mutation in TET2 or another gene, in contrast other genes that were frequently mutated did not show this trend (see Figure). TP53 gene was mutated in 16 samples, 7 of which as a single abnormality with VAF <20% therefore was reported as of unknown significance and recommended ruling out neoplasms in hematologic (lymphoid and myeloid) as well as solid tumors. SF3B1 gene mutations were detected in 19 samples and recommended ruling out refractory anemia with ringsideroblasts(RARS). Despite the small sampling (12 samples), follow up usingcfDNAtesting reliably recapitulated original bone marrow Biopsy's findings. In one patient, additionalsubcloneswere detected incfDNAthat were not detected in the bone marrow aspirate. Conclusions:cfDNAtesting is reliable approach to screen for the presence of Hematologic neoplasm and potentially could avoid the need for bone marrow biopsy in almost half the patients expected to have MDS or otherhematopoeticneoplasms. Positive diagnosis can be confirmed in additional 45% of patients and only 12.8% of patients will be reported with questionable results. Except for those with TP53 mutations, the rest of the 12.8% cases can be classified as Clonal Hematopoiesis of Indeterminate Potential (CHIP). While bone marrow is still the gold standard, our real world experience shows liquid biopsies can be sensitive and non-invasive approach to rule out MDS or other hematological diseases. Disclosures Funari: NeoGenomics Laboratories: Employment. Ma:Neogenomics Laboratories: Employment. Thangavelu:Neogenomics Laboratories: Employment. De Dios:Neogenomics Laboratories: Employment. Albitar:Neogenomics Laboratories: Employment, Equity Ownership.
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Paramonov, V. V., and I. S. Diagil. "Cumulative incidence of hematological neoplasms and dynamic of this in different regions of the Cherkasy oblast in 1980, 1989, 2001 and 2014 years." Клінічна та профілактична медицина 2, no. 8 (August 22, 2019): 69–76. http://dx.doi.org/10.31612/2616-4868.2(8).2019.08.
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The purpose of the study was to analyze the cumulative incidence of hematological neoplasia and evaluate the dynamics of this in different regions of Cherkasy oblast in 1980, 1989, 2001, 2014 yy.
Materials and methods. The epidemiological parameters of hematological neoplasms in the radiation-contaminated (RC), chemically contaminated (CC), radiation and chemically contaminated (RCC), conditionally clean (CNC) regions of Cherkassy oblast (CO) in 1980, 1989, 2001, 2014 yy. were analyzed. Classification of CO territories to the RC, CC, RCC, CNC regions was conducted based on reports of the dosimetry certification of all settlements of Ukraine after the Chernobyl accident and the results of determination of the level of chemical contamination by the sanitary and epidemiological service during 1980-2014 yy.
Results. It was determined, that, at the limit of statistical significant (p = 0.057), on the RC territory of CO in 2001 year the relative risk for the cumulative incidence of hematologic neoplasia was on 1.41 times higher (18,682 (95 % confidence interval (CI) = 14,426 – 16,879) against 13,187 (95 % CI = 9,495 – 16,879)), compared with CNC region. In addition, in the RC territory from 1989 to 2001 year the increasing at 9,342 times (1,999 (95% CI = 0.69–3.305) versus 18,682 (95% CI = 14.426 – 16.879)) of cumulative incidence of the hematopoietic and lymphoid systems neoplasm was detected. It is proved, that in the CNC region from 2001 to 2014 year at 1,791 times (13,187 (95% CI = 9.495 – 16.879) versus 23,619 (95% CI = 18.412 – 28.826)) higher level of the cumulative incidence of hematologic neoplasia was observed.
Conclusions. In the CO, which was polluted by the radiation factor because of the Chernobyl nuclear power plant accident, 5 years after that, in 2001 was detected the increasing of the relative risk of hematologic neoplasia, compared to that on the CNC region. In addition, on the RC territory from 1989 to 2001 year the increasing at 9,342 times of the incidence of hematopoietic and lymphoid system tumors was observed. This is evidence of pro-leukemic effects of ionization radiation and, probably, the increase in the diagnostic potential of the hematological service of the CO.
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Sumoza, Luis David, Marina Messinger, Patricia Sumoza, Roxana Aguirre, Poola Harsha, and Dayra Avila. "Concurrent Tumors in Patients with Hematologic Malignancies." Blood 124, no. 21 (December 6, 2014): 5997. http://dx.doi.org/10.1182/blood.v124.21.5997.5997.
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Abstract Background: Secondary tumors has been described in a variety of patients with either hematologic malignancies or solid neoplasm, and most of the time is related to previous chemotherapy and radiation therapy exposure, but little is found in the literature about synchronous or metachronous neoplasm that can be found in patient with a newly diagnosis of hematologic malignancy; we report 45 cases, presented in a single institution from 2007 to present. Methods: A retrospective review of records using our tumor registry data, from patient with hematologic malignancies at John H. Stroger Hospital of Cook County, was performed and 45 patients with either synchronous or metachronous neoplasm were identified. Results: Lung cancer was the most common malignancy representing 22.2%, Colorectal cancer 20%, Prostate cancer 17.7%, Breast cancer 11.1%, Urothelial cancer (Kidney and Bladder) 8.8%, Myelodisplastic syndrome, Pancreatic cancer, Thyroid cancer, Non-Hodgking lymphoma, Acute Myeloide Leukemia, Vulvar cancer, Testicular cancer and Skin Cancers 2.2% each one respectively. Results: We found that in our heterogeneous population of patient with hematologic malignancies, the incidence of synchronous or metachronous neoplasm practically follows a very similar pattern of the general population, despite that many of this patients have been exposed to chemotherapy and radiation therapy. Disclosures No relevant conflicts of interest to declare.
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Gaulin, Charles, Katalin Kelemen, and Cecilia Arana Yi. "Molecular Pathways in Clonal Hematopoiesis: From the Acquisition of Somatic Mutations to Transformation into Hematologic Neoplasm." Life 12, no. 8 (July 28, 2022): 1135. http://dx.doi.org/10.3390/life12081135.
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Hematopoietic stem cell aging, through the acquisition of somatic mutations, gives rise to clonal hematopoiesis (CH). While a high prevalence of CH has been described in otherwise healthy older adults, CH confers an increased risk of both hematologic and non-hematologic diseases. Classification of CH into clonal hematopoiesis of indeterminate potential (CHIP) and clonal cytopenia of undetermined significance (CCUS) further describes this neoplastic myeloid precursor state and stratifies individuals at risk of developing clinically significant complications. The sequential acquisition of driver mutations, such as DNMT3A, TET2, and ASXL1, provide a selective advantage and lead to clonal expansion. Inflammation, microbiome signatures, and external selective pressures also contribute to clonal evolution. Despite significant progress in recent years, the precise molecular mechanisms driving CH transformation to hematologic neoplasms are not well defined. Further understanding of these complex mechanisms may improve risk stratification and introduce therapeutic interventions in CH. Here we discuss the genetic drivers underpinning CH, mechanisms for clonal evolution, and transformation to hematologic neoplasm.
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Xu, Y., and P. H. Wiernik. "Systemic lupus erythematosus and B-cell hematologic neoplasm." Lupus 10, no. 12 (December 2001): 841–50. http://dx.doi.org/10.1191/096120301701548481.
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Labrador, Jorge, Covadonga Garcia Diaz, Beatriz Cuevas, Rodolfo Alvarez, Maria Victoria Cuevas, Gerardo Hermida, Tomas Jose Gonzalez-Lopez, and Pilar de Vicente. "Incidence of Second Malignancies in the History of Chronic Lymphocytic Leukemia." Blood 138, Supplement 1 (November 5, 2021): 4693. http://dx.doi.org/10.1182/blood-2021-148016.
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Abstract Introduction The occurrence of other neoplasms in patients diagnosed with chronic lymphocytic leukemia (CLL) is a known but insufficiently studied complication, highlighting the need for further research. Our study aims to analyze the incidence of other malignancies in CLL. Methods We performed a retrospective observational study of patients diagnosed with CLL between 2000-2016 at our center. Variables collected included: demographics, stage at diagnosis, treatment, response to treatment, death, other neoplasm (type, date of diagnosis, outcome), biomarker profiles studied by karyotyping, FISH, immunoglobulin heavy chain gene variable region mutational status, and TP53 mutational status. A descriptive study was performed. Quantitative variables are described as medians with their range, and qualitative variables as percentages. The relationship between qualitative variables and the development of second malignancies was performed using Chi-square and Fisher's exact test. Survival analyses were performed using the Kaplan-Meier method and the difference between groups was analyzed using the log-rank test. Results A total of 182 patients were evaluated, 104 men (57%) and 78 women (43%); median age: 74 years (39 - 97). Most patients were diagnosed at early stages (74% at Rai stage 0 and 84% at Binet stage A) and the median CIRS scale score at diagnosis was 4 (0 - 15). With a median follow-up of 76 months (20-212), 77/182 (42%) patients had received ≥1 line(s) of treatment: 1: 53%, 2: 26%, 3: 8%, ≥4: 13%. Forty-nine cases (27%) were reported with other malignancies in addition to CLL; cases with Richter transformation (n=5, 2.7%) were excluded. The diagnosis of CLL preceded the other neoplasm in 33/182 cases (18%): 8 hematologic and 27 non-hematologic neoplasms. Half of the hematologic malignancies involved MGUS (n=4), 1 mutated JAK2 (V617F) cMPN, 1 AML and 1 MALT lymphoma. As for non-hematologic tumors, non-melanoma skin cancer accounted for 30% of cases (n=8), followed by breast cancer (n=5, 18.5%). Neoplasms of the stomach, colon, liver, bladder and prostate together accounted for 37%, in the same proportion each (n=2, 7.4%). The remaining neoplasms corresponded to lung and bronchus, kidney, melanoma and pancreas. Five of the 27 patients had a third solid organ neoplasm, with non-melanoma skin cancer again being the most frequent (n=2). The other neoplasms were lung, small bowel and thyroid. The incidence of second neoplasms was higher in treated patients (26% vs. 12.4%, p=0.019). The incidence of a second hematologic malignancy was related to treatment administration (9%) compared to 1% in untreated patients (p=0.011), especially in those with ≥ 3 lines (37.5% vs. 3%), p=0.024. We could not find any association between the variables analyzed and the development of second non-hematologic malignancies. The development of second neoplasms after the diagnosis of CLL did not have a negative impact on the overall survival of these patients. Conclusions The incidence of second malignancies is high in patients with CLL, being higher in those patients who have received treatment, and especially in those with a greater number of lines received. In contrast, the development of solid tumors did not seem to be affected by treatment administration, which should motivate further investigation in specific subgroups of patients. In our series, the development of second neoplasms after the diagnosis of CLL did not have a negative impact on the overall survival of these patients. Disclosures Gonzalez-Lopez: Novartis: Other: Advisoryboard and speakers honoraria, Research Funding; Amgen: Other: Advisory board and speakers honoraria, Research Funding; Sobi: Other: Advisory board honoraria; Grifols: Other: Advisory board honoraria.
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Ozhand, Ali, Thomas M. Mack, Sophia S. Wang, Ann S. Hamilton, Amie E. Hwang, Dennis K. Deapen, Bharat N. Nathwani, and Wendy Cozen. "Heritability of Hematologic Neoplasms in Twins: An Update." Blood 120, no. 21 (November 16, 2012): 3636. http://dx.doi.org/10.1182/blood.v120.21.3636.3636.
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Abstract Abstract 3636 Hodgkin lymphoma, especially the young adult type, is one of the most heritable cancers. We previously reported a high risk of Hodgkin lymphoma to monozygotic (MZ), but not dizygotic (DZ) co-twins of cases, and only a modest difference in risk between MZ and DZ co-twins of non-Hodgkin lymphoma (NHL) cases (Mack, 1995). After an additional 18 years of follow-up, we have now updated the observed occurrence of hematologic malignancies in the initially unaffected co-twins of HL, NHL, multiple myeloma (MM), and chronic lymphocytic leukemia (CLL) twin probands. The number of calendar and age-specific person-years at risk for each co-twin was calculated from the date of diagnosis of the proband to the date of last follow-up of the co-twin, defined by the last date of contact, date of death ascertained directly or from linkage with the National Death Index, or evidence of current vital status from a national tracing program. The expected number of cases was calculated by applying the calendar and age-specific incidence rates by 5-year interval categories for each hematologic neoplasm from the Surveillance, Epidemiology and End-Results Program to the person-years of risk. Diagnoses of hematological neoplasms in the co-twins by age and year were ascertained by direct follow-up augmented by a linkage with the National Death Index, using diagnoses categorized by the ICD-9 codes. The standardized incidence ratio (SIR) was computed as the observed to expected number of cases; 95% confidence intervals (CI) (Breslow and Day, 1987), and the risk ratio (RR) (ratio of the SIR in MZ co-twins compared to that in DZ co-twins) were calculated. Whereas the SIR for DZ co-twins measures the heritable and acquired components of risk to first-degree family members, the RR provides evidence of genetic heritability, based on the additional genomic commonality of MZ twins. A total of 364 (HL), 501 (NHL), 91 (MM), and 45 (CLL) co-twins of probands contributed to the analysis. The risk of developing the same hematologic neoplasm as the proband was generally higher in the MZ compared to the DZ co-twins, with the highest RR observed for HL (13.3) and the lowest for NHL (1.75). Although more than 10,000 person-years were added since the original paper, the RR's for HL and NHL did not change substantially from those reported in 1995. The RR for CLL was 3.3 suggesting moderately strong heritability. One MZ co-twin developed MM producing a large SIR, however chance cannot be easily ruled out. The findings of most interest are the continued very high risk of HL in MZ compared to DZ twins confirming the strong heritability of this neoplasm, and the relatively low RR for NHL. MZ and DZ co-twins of NHL probands had increased but similar SIR's, suggesting that shared environmental factors are more important than heritability. Subtype–specific information on the NHL type was not available from the ICD-9 codes used by the Death Index to identify new cases, so it is possible that stronger NHL heritability would be evident if subtypes were considered separately. Table 1. Occurrence of similar hematologic neoplasms in co-twins of lymphoma and chronic lymphocytic leukemia probands Neoplasm Type Zygosity No. at risk No. Cases Expected No. Cases Observed SIR1 (95% CI2) Risk Ratio: SIR1MZ/SIR1DZ Hodgkin lymphoma MZ 170 0.11 13 114.2 (60.7, 195.3) 13.3 DZ 194 0.12 1 8.6 (0.1, 47.6) Non-Hodgkin lymphoma MZ 213 0.51 6 11.8 (4.3, 25.7) 1.75 DZ 288 0.74 5 6.7 (2.2, 15.7) Multiple myeloma MZ 51 0.03 1 28.8 (0.38, 160,3) NA DZ 40 0.02 0 0 Chronic lymphocytic leukemia MZ 25 0.01 4 260.9 (70.2, 668,0) 3.3 DZ 20 0.01 1 79.8 (1.0, 444.0) 1 Standardized incidence ratio 2 95% Confidence intervals Disclosures: No relevant conflicts of interest to declare.
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Lim, Tristan L., David B. Lieberman, Adam R. Davis, Ryan Hausler, Ashkan Bigdeli, Yimei Li, Jacquelyn Powers, et al. "Germline POT1 Variants Can Predispose to a Variety of Hematologic Neoplasms." Blood 136, Supplement 1 (November 5, 2020): 2–4. http://dx.doi.org/10.1182/blood-2020-134160.
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Germline mutations in the shelterin component protection of telomeres 1 (POT1) were recently found to be associated with familial chronic lymphocytic leukemia (CLL), melanoma, glioma, and several other familial cancer syndromes. The role of POT1 mutations in myeloid neoplasms and other hematologic malignancies, however, remains unknown. To explore the role of POT1 variants in hematologic neoplasms, we analyzed POT1 variants in 3323 consecutive patients who underwent next-generation sequencing (NGS) of a panel of hematologic malignancy-associated genes at our institution and characterized the clinical and pathological characteristics of patients with germline and somatic POT1 mutations. Of 3323 consecutive patients who underwent NGS, 2770 patients had a hematologic malignancy (lymphoid n = 1299, myeloid n = 934, and both lymphoid and myeloid n = 537), while 553 patients were evaluated for non-malignant cytopenias. All 57 patients (2.06%) carrying either a POT1 disease-associated variant or variant of uncertain significance had a hematologic malignancy compared to no identified POT1 variants in 553 patients with benign cytopenias (OR = 23.5, p < 0.001), suggesting that the presence of POT1 variants was predictive of a hematologic malignancy. Of 57 patients, 33 had lymphoid malignancies, 23 had myeloid neoplasms, and 2 had a lymphoid and myeloid neoplasm (Fig 1). Patient variants were classified as germline or somatic using constitutional DNA sequencing, POT1 emergence/disappearance over time, or POT1 maintenance in remission. In the absence of these data, likely germline or likely somatic designations were made by assessing variant allele frequencies against clinical/pathologic characteristics. 18 patients (33%) were found to have germline or likely germline POT1 variants (29% and 42% in the lymphoid and myeloid malignancy groups, respectively). Another 6 patients (11%) had variants whose germline status could not be determined. Of the 17 unique germline POT1 variants, 10 were missense and located within mapped functional protein domains, while 7 were classified as predicted loss-of-function (pLOF) due to a disruption of start, premature stop, frameshift, or spice site alteration. Patients with hematological malignancies had a ~5-8x increased odds of having a germline pLOF POT1 variant compared to cancer-free individuals in the Genome Aggregation Database (gnomAD, n = 113,108 exomes, OR = 7.5, p < 0.001) or in the Penn Medicine BioBank (PMBB, n = 7877, OR = 5.0, p = 0.010), with a prevalence of 0.25% compared to 0.03% and 0.05%, respectively. Germline pLOF POT1 variants were significantly more enriched in patients with myeloid (gnomAD: OR = 6.1, p = 0.02) and lymphoid (gnomAD: OR = 9.8, p < 0.001; PMBB: OR = 6.5, p = 0.004) malignancies. In 33 patients with lymphoid malignancies and POT1 variants, the most common diagnoses were CLL/SLL (n = 21, germline n = 6, somatic n = 12), CD5- CD10- indolent B cell neoplasms (n = 4, germline n = 1, somatic n = 3), and multiple myeloma (n = 3, all somatic) (Table 1). Lymphoid malignancies with a germline POT1 variant had a relative paucity of additional mutations; in contrast, somatic POT1 variants frequently co-occurred with other mutations, most commonly with TP53 (Fig 2, n = 5, 23%). Among 23 patients with myeloid malignancies, patients with germline POT1 variants developed malignancies at a significantly younger age compared to those whose POT1 variants were somatic (median age 59.5 vs 70.5 years, p = 0.04). The most common diagnosis in patients with myeloid neoplasms carrying germline POT1 variants was MPN (germline n = 5, somatic n = 1). AML, MDS/MPN, and MDS occurred in 4, 3, and 1 patients respectively. All patients with myeloid neoplasms had additional disease-associated mutations, with the most common co-occurring variants in TET2 (n = 7), JAK2 (n = 6, co-occurring with 50% of germline POT1 myeloid variants), and NRAS (n = 6). In conclusion, this is the first comprehensive analysis of POT1 variants in an unselected hospital-based population undergoing molecular testing for variants associated with hematologic malignancies. Our results show that the presence of POT1 variants is predictive of having a hematologic neoplasm and that over 30% of POT1 variants in hematologic malignancy patients are germline. Our study expands the spectrum of POT1-associated familial neoplasms and highlights the needs for better recognition of familial hematologic cancer syndromes. Disclosures No relevant conflicts of interest to declare.
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Hoermann, Gregor, Georg Greiner, Andrea Griesmacher, and Peter Valent. "Clonal Hematopoiesis of Indeterminate Potential: A Multidisciplinary Challenge in Personalized Hematology." Journal of Personalized Medicine 10, no. 3 (August 20, 2020): 94. http://dx.doi.org/10.3390/jpm10030094.
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Clonal hematopoiesis of indeterminate potential (CHIP) is a common age-related condition that represents a potential pre-phase of hematologic neoplasm. Next-generation sequencing (NGS) is used to detect and monitor clonal hematopoiesis, and the spectrum of mutations substantially overlaps with that of myeloid neoplasms with DNMT3A, TET2, ASXL1, and JAK2 being the most frequently mutated. While, in general, the risk of progression to an overt myeloid neoplasm is only modest, the progression risk increases in patients with unexplained cytopenia or multiple mutations. In addition, CHIP represents a previously unrecognized major risk factor for atherosclerosis and cardiovascular disease (CVD), including coronary heart disease, degenerative aortic valve stenosis, and chronic heart failure; and a causative role of CHIP in the development of CVD has been demonstrated in vitro and in vivo. The management of patients with CHIP is a rapidly emerging topic in personalized medicine, as NGS has become widely available for clinical medicine. It requires a highly multidisciplinary setting, including hematology/oncology, cardiology, (clinical) pathology, and genetics for individualized guidance. Further research is urgently needed to provide robust evidence for future guidelines and recommendations on the management of patients with CHIP in the era of personalized medicine.
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Economopoulou, Panagiota, Athena Chrysikopoulou, Kalliroi Goula, Ilectra Papiri, Amanda Psyrri, Ioannis Kotsantis, Nikolaos Arkadopoulos, and Nikolaos V. Michalopoulos. "Breast Metastasis from Neuroendocrine Carcinoma of the Lung: A Case Report and Review of the Literature." Case Reports in Oncology 13, no. 3 (October 16, 2020): 1281–84. http://dx.doi.org/10.1159/000510936.
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Breast metastasis originating from non-mammary tumors is an uncommon event accounting for 0.5–6.6% of all breast neoplasms. The primary malignancies that reportedly metastasize to the breast most frequently are hematologic malignancies, such as leukemia and lymphoma and malignant melanoma. Breast cancer metastasis resulting from a primary lung neoplasm is significantly less commonly described in the literature. Herein, we present the unusual case of a patient with metastatic disease to the breast from a primary lung tumor.
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Stojanoski, Zlate, Anzelika Karadzova-Stojanoska, Aleksandra Pivkova-Veljanovska, Sonja Genadieva-Stavrik, Lazar Cadievski, Martin Ivanovski, Oliver Karanfilski, Lidija Cevreska, and Borce Georgievski. "Treatment of Severe Autoimmune Diseases with Autologous Hematopoietic Stem Cell Transplantation." Macedonian Medical Review 71, no. 1 (January 1, 2017): 10–14. http://dx.doi.org/10.1515/mmr-2017-0003.
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Abstract Introduction. Autoimmune diseases are a family of more than 100 heterogeneous conditions that affect 5 to 8% of the world’s population. The etiology is still un-known but the disregulation of the regulatory T-lymphocytes play a central role inthe autoimmunity and the success of the long-term remission. Although conventional immunosuppression and new biological agents can provide disease control in severely affected patients, such treatments are rarely curative and alternative strategies are needed. Indeed, severe forms of systemic autoimmune diseases, such as multiple sclerosis (MS), systemic sclerosis (SSc), rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), juvenile idiopathic arthritis (JIA), hematologic immune cytopenia (HIC) and Crohn’s disease are difficult to be treated. High-dose immunosuppressive therapy followed by autologous stem cells transplantation is reliable option for a successive treatment of this group of patients. Aim. To determine the safety of the procedure of autologous stem cell transplantation in patients with autoimmune diseases and concomitant malignant hematological disorders. Methods. During a period of 15 years (from September 2000 to September 2015) at the University Clinic of Hematology in Skopje we have treated 6 patients with autoimmune disease and concomitant hematological neoplasm. None of the patients was treated for primary autoimmune diseases. Two men and 4 women, with median age of 47 years were treated. Sjogren syndrome and multiple myeloma were found in 2 patients, polyartheritis nodosa and multiple myeloma in 1 patient, rheumatoid arthritis and acute myeloblastic leukemia in 1, systemic lupus erythematosus and non-Hodgkin lymphoma in 1; severe psoriasis and acute myeloblastic leukemia in 1 patient. Results. All treated patients are alive after trans-planted procedure, with transplant related mortality day +100: 0. Conclusion. Autologous stem cell transplantation is safe and recommended option for treatment ofpatients with autoimmune disease and hematologic neoplasm.
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Naoe, Tomoki. "1) Chemical and Molecular-targeted Therapy of Hematologic Neoplasm." Nihon Naika Gakkai Zasshi 97, no. 9 (2008): 2093–97. http://dx.doi.org/10.2169/naika.97.2093.
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Naoe, Tomoki. "1) Chemical and Molecular-targeted Therapy of Hematologic Neoplasm." Nihon Naika Gakkai Zasshi 97, Suppl (2008): 85a. http://dx.doi.org/10.2169/naika.97.85a.
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Sepkowitz, Kent A. "Treatment of Patients with Hematologic Neoplasm, Fever, and Neutropenia." Clinical Infectious Diseases 40, Supplement_4 (April 1, 2005): S253—S256. http://dx.doi.org/10.1086/427330.
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Asou, N., T. Hattori, M. Matsuoka, F. Kawano, and K. Takatsuki. "Rearrangements of T-cell antigen receptor delta chain gene in hematologic neoplasms." Blood 74, no. 8 (December 1, 1989): 2707–12. http://dx.doi.org/10.1182/blood.v74.8.2707.2707.
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Abstract Rearrangements of the T-cell antigen receptor (TCR) delta chain gene were studied in primary neoplastic cells from 137 patients with leukemia or lymphoma. TCR delta gene rearrangements or deletions were observed in all 50 T-cell neoplasms: 5 of 8 CD3- T-cell neoplasms showed rearrangements, whereas biallelic deletion of TCR delta gene was the most common pattern in CD3+ T-cell neoplasm (39 of 42 patients). Rearrangements of TCR delta gene were also detected in 23 of 40 immature B-cell leukemias, including 22 of 25 patients with rearrangements of TCR gamma gene, 2 of 17 mature B-cell neoplasms, and 3 of 30 myeloid leukemias. Thus, TCR delta gene rearrangement or deletion is always found in T-cell neoplasms and is frequently found in immature B-cell leukemias associated with TCR gamma gene rearrangement. Furthermore, TCR delta gene rearrangements associated with the germline configuration of the TCR beta, gamma, and immunoglobulin heavy chain genes were observed in two immature T-cell leukemias, suggesting that TCR delta gene rearrangements precede TCR gamma and beta gene rearrangements. These results indicate that an analysis of TCR delta gene rearrangement provides potential tools to establish the clonality of immature T-cell neoplasms and to identify the normal stages of lymphocyte differentiation.
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Asou, N., T. Hattori, M. Matsuoka, F. Kawano, and K. Takatsuki. "Rearrangements of T-cell antigen receptor delta chain gene in hematologic neoplasms." Blood 74, no. 8 (December 1, 1989): 2707–12. http://dx.doi.org/10.1182/blood.v74.8.2707.bloodjournal7482707.
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Rearrangements of the T-cell antigen receptor (TCR) delta chain gene were studied in primary neoplastic cells from 137 patients with leukemia or lymphoma. TCR delta gene rearrangements or deletions were observed in all 50 T-cell neoplasms: 5 of 8 CD3- T-cell neoplasms showed rearrangements, whereas biallelic deletion of TCR delta gene was the most common pattern in CD3+ T-cell neoplasm (39 of 42 patients). Rearrangements of TCR delta gene were also detected in 23 of 40 immature B-cell leukemias, including 22 of 25 patients with rearrangements of TCR gamma gene, 2 of 17 mature B-cell neoplasms, and 3 of 30 myeloid leukemias. Thus, TCR delta gene rearrangement or deletion is always found in T-cell neoplasms and is frequently found in immature B-cell leukemias associated with TCR gamma gene rearrangement. Furthermore, TCR delta gene rearrangements associated with the germline configuration of the TCR beta, gamma, and immunoglobulin heavy chain genes were observed in two immature T-cell leukemias, suggesting that TCR delta gene rearrangements precede TCR gamma and beta gene rearrangements. These results indicate that an analysis of TCR delta gene rearrangement provides potential tools to establish the clonality of immature T-cell neoplasms and to identify the normal stages of lymphocyte differentiation.
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Dunlap, Quinn A., Kristine E. Day, Samuel G. Borak, and Bradford A. Woodworth. "Pathology Quiz Case: Plasmacytoid Dendritic Cell Neoplasm." Allergy & Rhinology 5, no. 1 (January 2014): ar.2014.5.0085. http://dx.doi.org/10.2500/ar.2014.5.0085.
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Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy that possesses a heterogenous clinical and immunophenotypic presentation. The current case report describes an interesting and unique presentation of BPDCN as a primary paranasal sinus tumor without evidence of cutaneous or systemic involvement. As such, the report further contributes to the ongoing debate regarding the true putative origin of the neoplasm, as well as highlights the optimal diagnostic modalities, paramount importance of early diagnosis, and vast heterogeneity exhibited by this fascinating malignancy. The atypical presentation described here indicates the manifestations of BPDCN are more heterogenous than previously documented and thus can not be definitively ruled out in the absence of bone marrow, peripheral blood, or cutaneous involvement. Furthermore, atypical neoplastic presentations mandate flow cytometry and adjunctive immunohistochemistry for the definitive diagnosis of BPDCN, and early diagnosis of such neoplasms are critical for rapid initiation of treatment and improved outcomes.
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Steensma, David P. "New challenges in evaluating anemia in older persons in the era of molecular testing." Hematology 2016, no. 1 (December 2, 2016): 67–73. http://dx.doi.org/10.1182/asheducation-2016.1.67.
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Abstract Anemia is common in older persons, and often remains unexplained despite a thorough clinical history, physical examination, and focused laboratory testing, including marrow aspiration, biopsy, and karyotyping. The advent of molecular genetic testing panels in hematology clinical practice has complicated the evaluation of older patients with unexplained anemia. While the presence of a somatic mutation provides evidence of clonal hematopoiesis and may support a diagnosis of a hematologic neoplasm such as one of the myelodysplastic syndromes (MDS), with rare exceptions, individual mutations are not strongly associated with one specific diagnosis, nor are they by themselves diagnostic of neoplasia. A clonal mutation in a patient with cytopenias and a nondiagnostic bone marrow may indicate a syndrome with a similar natural history to MDS, but at present there are no clear criteria to distinguish cytopenias coincidentally seen in association with an unrelated clonal mutation from cytopenias that are directly caused by that mutation. Ongoing and planned analyses will help define when mutation patterns alone can identify a disorder equivalent to a morphologically defined myeloid neoplasm such as MDS, further clarifying the etiology and natural history of unexplained anemia in the elderly.
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Naiyer, N., and H. Lin. "Diagnostic utility of flow cytometric immunophenotyping in cerebrospinal fluid specimen." American Journal of Clinical Pathology 156, Supplement_1 (October 1, 2021): S121. http://dx.doi.org/10.1093/ajcp/aqab191.258.
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Abstract Introduction/Objective Flow cytometric immunophenotyping (FCI) of cerebrospinal fluids (CSF) has increasingly been used for diagnosing and monitoring hematologic malignancies. We reviewed CSF specimens sent for flow cytometry evaluation to identify the utility and limitations of FCI. Methods/Case Report We performed a retrospective review on CSF specimens received from July to October 2020. Samples were sent with requisition for unexplained neurologic signs or symptoms, to determine CNS involvement of neoplasm, or to stage a neoplasm. We reviewed specimen volume and cell count of flow cytometry samples and electronic medical records for possible diagnosis at time of specimen submission, final diagnosis, and concurrent cytology diagnosis. Results (if a Case Study enter NA) A total of 104 CSF samples from 59 patients were processed by the Flow Cytometry Laboratory during the review period. Of the 104 samples, 66% were from patients with a prior history of a hematologic malignancy, of which 20% had abnormal findings by FCI and cytomorphology. FCI was noncontributory for the cases in which patient did not have a previously diagnosed hematologic malignancy and underwent lumbar puncture for neurological abnormalities (n = 34). Concurrent cytology results were available in all but one case. Atypical or reactive findings by cytomorphology were seen in 21 cases (20%), for which flow cytometry studies showed no diagnostic immunophenotype in 12 cases. Abnormal FCI results occurred in 5 cases with history of hematologic malignancies, while concurrent cytomorphologic reports were negative. Conclusion Our findings suggest that CSF flow cytometry has low utility for screening patients with undifferentiated neurologic symptoms or without a prior hematologic malignancy history. Use as a screening tool for cases without clinical suspicion of hematolymphoid neoplasm is debatable. Flow cytometric and cytomorphologic analysis should be performed concurrently. While flow cytometric analysis in CSF may have higher sensitivity in hematologic malignancies, cytomorphology appears more favorable in identifying atypia or reactive conditions.
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Sonneveld, Pieter, Johannes Abels, Karl Heinz Kurth, and Anne Hagemeyer. "Secondary hematologic neoplasm after intravesical chemotherapy for superficial bladder carcinoma." Cancer 65, no. 1 (January 1, 1990): 23–25. http://dx.doi.org/10.1002/1097-0142(19900101)65:1<23::aid-cncr2820650107>3.0.co;2-q.
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Tegg, Elizabeth M., Russell J. Thomson, Jim M. Stankovich, Annette Banks, Katherine A. Marsden, Ray M. Lowenthal, Simon J. Foote, and Joanne L. Dickinson. "Anticipation in familial hematologic malignancies." Blood 117, no. 4 (January 27, 2011): 1308–10. http://dx.doi.org/10.1182/blood-2010-07-296475.
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Abstract We describe a collection of 11 families with ≥ 2 generations of family members whose condition has been diagnosed as a hematologic malignancy. In 9 of these families there was a significant decrease in age at diagnosis in each subsequent generation (anticipation). The mean age at diagnosis in the first generation was 67.8 years, 57.1 years in the second, and 41.8 years in the third (P < .0002). This was confirmed in both direct parent-offspring pairs with a mean reduction of 19 years in the age at diagnosis (P = .0087) and when the analysis was repeated only including cases of mature B-cell neoplasm (P = .0007). We believe that these families provide further insight into the nature of the underlying genetic mechanism of predisposition in these families.
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Pak, Daniel M., and Maria S. Tretiakova. "An Unusual Manifestation of Blastic Plasmacytoid Dendritic Cell Neoplasm as a Testicular Tumor." Case Reports in Pathology 2019 (October 7, 2019): 1–4. http://dx.doi.org/10.1155/2019/9196167.
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Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a clinically aggressive hematologic malignancy arising from precursors of plasmacytoid dendritic cells that represent less than 1% of hematological malignancies. BPDCN initially presents with cutaneous involvement and a characteristic immunophenotype of CD4, CD56, and CD123 co-expression. Upon disease progression, BPDCN shows a strong predilection for bone marrow, peripheral blood, and lymph nodes, whereas manifestations in visceral organs are rare. Significant heterogeneity in clinical presentation and immunophenotypic profile makes BPDCN challenging to diagnose without an integrated approach based on patient history, clinical features, tumor pathology, and comprehensive immunohistochemical studies. Herein we report the first case of relapsed BPDCN manifesting as a unilateral testicular tumor.
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Iliakis, Theodoros, Niki Rougkala, Panagiotis T. Diamantopoulos, Vasiliki Papadopoulou, Fani Kalala, Konstantinos Zervakis, Nefeli Giannakopoulou, et al. "An Adult Patient with Systemic Mastocytosis and B-Acute Lymphoblastic Leukemia." Case Reports in Medicine 2014 (2014): 1–5. http://dx.doi.org/10.1155/2014/526129.
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Mastocytosis is a myeloproliferative neoplasm characterized by clonal expansion of abnormal mast cells, ranging from the cutaneous forms of the disease to mast cell leukemia. In a significant proportion of patients, systemic mastocytosis (SM) coexists with another hematologic malignancy, termed systemic mastocytosis with an associated hematologic nonmast cell lineage disorder (SM-AHNMD). Despite the pronounced predominance of concomitant myeloid neoplasms, the much more unusual coexistence of lymphoproliferative diseases has also been reported. Imatinib mesylate (IM) has a role in the treatment of SM in the absence of the KITD816V mutation. In the setting of SM-AHNMD, eradicating the nonmast cell malignant clone greatly affects prognosis. We report a case of an adult patient with SM associated with B-lineage acute lymphoblastic leukemia (B-ALL). Three cases of concurrent adult ALL and mastocytosis have been reported in the literature, one concerning SM and two concerning cutaneous mastocytosis (CM), as well as six cases of concomitant CM and ALL in children.
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Kutler, David I., Bhuvanesh Singh, Jaya Satagopan, Sat Dev Batish, Marianne Berwick, Philip F. Giampietro, Helmut Hanenberg, and Arleen D. Auerbach. "A 20-year perspective on the International Fanconi Anemia Registry (IFAR)." Blood 101, no. 4 (February 15, 2003): 1249–56. http://dx.doi.org/10.1182/blood-2002-07-2170.
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Fanconi anemia (FA) is an autosomal recessive disorder characterized by cellular hypersensitivity to DNA cross-linking agents and cancer predisposition. Recent evidence for the interactions of ataxia-telangiectasia mutated protein ATM and breast cancer susceptibility proteins BRCA1 and BRCA2 (identified as FANCD1) with other known FA proteins suggests that FA proteins have a significant role in DNA repair/recombination and cell cycle control. The International Fanconi Anemia Registry (IFAR), a prospectively collected database of FA patients, allows us the unique opportunity to analyze the natural history of this rare, clinically heterogeneous disorder in a large number of patients. Of the 754 subjects in this study, 601 (80%) experienced the onset of bone marrow failure (BMF), and 173 (23%) had a total of 199 neoplasms. Of these neoplasms, 120 (60%) were hematologic and 79 (40%) were nonhematologic. The risk of developing BMF and hematologic and nonhematologic neoplasms increased with advancing age with a 90%, 33%, and 28% cumulative incidence, respectively, by 40 years of age. Univariate analysis revealed a significantly earlier onset of BMF and poorer survival for complementation group C compared with groups A and G; however, there was no significant difference in the time to hematologic or nonhematologic neoplasm development between these groups. Multivariate analysis of overall survival time shows that FANCCmutations (P = .007) and hematopoietic stem cell transplantation (P = < .0001) define a poor-risk subgroup. The results of this study of patients registered in the IFAR over a 20-year period provide information that will enable better prediction of outcome and aid clinicians with decisions regarding major therapeutic modalities.
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Loring, Lisa A., David M. Panicek, and Martin S. Karpeh. "Portal System Thrombosis After Splenectomy for Neoplasm or Chronic Hematologic Disorder." Journal of Computer Assisted Tomography 22, no. 6 (November 1998): 856–60. http://dx.doi.org/10.1097/00004728-199811000-00003.
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Tefferi, Ayalew, Sahrish Shah, Terra L. Lasho, Mrinal M. Patnaik, Kaaren K. Reichard, Curtis A. Hanson, Rhett P. Ketterling, and Animesh Pardanani. "Practice-relevant demarcation of systemic mastocytosis associated with another hematologic neoplasm." American Journal of Hematology 93, no. 12 (October 17, 2018): E383—E386. http://dx.doi.org/10.1002/ajh.25269.
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Kasbekar, Monica, Valentina Nardi, Paola Dal Cin, Andrew M. Brunner, Meghan Burke, Yi-Bin Chen, Christine Connolly, et al. "Targeted FGFR inhibition results in a durable remission in an FGFR1-driven myeloid neoplasm with eosinophilia." Blood Advances 4, no. 13 (July 10, 2020): 3136–40. http://dx.doi.org/10.1182/bloodadvances.2020002308.
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Key Points A novel PCM1-FGFR1 gene rearrangement was identified in a patient with a myeloid neoplasm with eosinophilia. Futibatinib, an oral selective small molecule inhibitor of FGFR1-4, resulted in a durable complete hematologic and cytogenetic remission.
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Ladetto, Marco, Sonia Vallet, Andreas Trojan, Maria Dell'Aquila, Luigia Monitillo, Rosalba Rosato, Loredana Santo, et al. "Cyclooxygenase-2 (COX-2) is frequently expressed in multiple myeloma and is an independent predictor of poor outcome." Blood 105, no. 12 (June 15, 2005): 4784–91. http://dx.doi.org/10.1182/blood-2004-11-4201.
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Abstract Cyclooxygenase 2 (COX-2) is an inflammation-associated enzyme involved in the pathogenesis of many solid tumors, but little is known about its presence and role in hematologic neoplasms. Multiple myeloma (MM) is known to involve a deregulated cytokine network with secretion of inflammatory mediators. We thus decided to investigate the involvement of COX-2 in this neoplasm. Western blotting (WB) was used to evaluate 142 bone marrow (BM) specimens, including MM and monoclonal gammopathy of undetermined significance (MGUS). Selected cases under-went further evaluation by WB on purified CD138+ cells, immunohistochemistry (IC), and real-time polymerase chain reaction (PCR) for mRNA expression. COX-2 was expressed in 11% (2 of 18) of MGUS specimens, 31% (29 of 94) of MM at diagnosis, and 47% (14 of 30) of MM with relapsed/refractory disease. COX-2 positivity was associated with a poor outcome in terms of progression-free (18 vs 36 months; P < .001) and overall survival (28 vs 52 months; P < .05). Real-time PCR showed COX-2 mRNA overexpression. IC and cell separation studies demonstrated COX-2 expression to be restricted to malignant plasma cells. This is the first report of the presence and prognostic role of COX-2 expression in MM. Future studies will assess COX-2 involvement in other hematologic tumors and its potential use as a therapeutic or chemo-preventive target in onco-hematology. (Blood. 2005; 105:4784-4791)
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Tavernier, Emmanuelle, Stephane de Botton, Nathalie Dhedin, Claude-Eric Bulabois, Oumedaly Reman, Norbert Vey, Frederic Garban, et al. "Secondary or Concomitant Neoplasms among Adults Diagnosed with Acute Lymphoblastic Leukemia (ALL) and Treated According to the LALA-87 and LALA-94 Trials." Blood 106, no. 11 (November 16, 2005): 1826. http://dx.doi.org/10.1182/blood.v106.11.1826.1826.
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Abstract Second malignant neoplasms are a serious complication after successful treatment of childhood ALL. Although treatment intensity and outcome were not comparable, with improvements in survival, it is important to evaluate the rate and the type of second neoplasms in adults with ALL. We analyzed the data from the GET-LALA group. A cohort of 1493 patients, aged 15 to 60 years and enrolled on two successive multicenter protocols between 1987 and 2002, was observed to determine the incidence of second neoplasms and associated risk factors. The median follow-up time from diagnosis was 6 years. By February 2005, secondary or concomitant neoplasms were documented in 23 patients (median age: 36 years, range:18–57) including 9 acute myeloid leukemias, 4 non Hodgkin lymphomas, 5 skin tumors, and 5 other solid tumors (1 lung cancer, 1 tongue carcinoma, 1 thymoma, 1 condrosarcoma, 1 histiocytosis). Neoplasms developed 0.5 to 13.8 years (median, 4.5 years) after the diagnosis of ALL. 22 patients were in first remission, one was in second remission. The overall cumulative risk of secondary neoplasms was 2.1% at 5 years, 4.9% at 10 years, 9.4% at 15 years. The cumulative risk of developing a second hematologic malignancy was 1.8% at 5 years, 2.2% at 10 years, 3.3% at 18 years; that of developing a solid tumor was 0.2% at 5 years, 2.8% at 10 years, 6.2% at 15 years. The development of secondary neoplasm was not associated with the use of any specific cytotoxic agent. However, risk of skin tumor increased with radiation dose and transplantation (p = 0.01). Overall survival after the diagnosis of a second malignant neoplasm was 55% at 10 years. However, the median overall survival in patients developing acute myeloid leukemia was of 5.7 months. Considering the low-survival rate of this large unselected adult ALL cohort (32% at 10 years), considering the poorer results comparing to childhood ALL treatment, the risk of secondary or concomitant neoplasm remains probably under estimated. Larger series with long-term follow-up are, however, mandatory. Figure Figure
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Frederiksen, Henrik, Dóra Körmendiné Farkas, Christian Fynbo Christiansen, Hans Carl Hasselbalch, and Henrik Toft Sørensen. "Chronic myeloproliferative neoplasms and subsequent cancer risk: a Danish population-based cohort study." Blood 118, no. 25 (December 15, 2011): 6515–20. http://dx.doi.org/10.1182/blood-2011-04-348755.
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Abstract Patients with chronic myeloproliferative neoplasms, including essential thrombocythemia (ET), polycythemia vera (PV), and chronic myeloid leukemia (CML), are at increased risk of new hematologic malignancies, but their risk of nonhematologic malignancies remains unknown. In the present study, we assessed the risk of both types of malignancies after an ET, PV, or CML diagnosis. We linked 2 population-based nationwide registries, the Danish National Registry of Patients, covering all Danish hospitals and the Danish Cancer Registry, and assessed subsequent cancer risk in a cohort of all 7229 patients diagnosed with a chronic myeloproliferative neoplasm during 1977-2008. We compared the incidence of subsequent cancer in this cohort with that expected on the basis of cancer incidence in the general population (standardized incidence ratio). Overall, ET, PV, and CML patients were at increased risk of developing both new hematologic and nonhematologic cancers. The standardized incidence ratio for developing a nonhematologic cancer was 1.2 (95% confidence interval [95% CI]): 1.0-1.4) for patients with ET, 1.4 (95% CI: 1.3-1.5) for patients with PV, and 1.6 (95% CI: 1.3-2.0) for patients with CML. We conclude that patients with chronic myeloproliferative neoplasms are at increased risk of developing a new malignant disease.
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Taylor, Justin, Mark Donoghue, Raajit K. Rampal, Roni Tamari, Martin S. Tallman, Darren R. Feldman, Barry S. Taylor, and Omar I. Abdel-Wahab. "Hematologic Malignancies Arising in Patients with Germ Cell Tumors: Secondary Somatic Differentiation of Hematopoietic Malignancies from Germ Cell Precursors." Blood 132, Supplement 1 (November 29, 2018): 87. http://dx.doi.org/10.1182/blood-2018-99-111976.
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Abstract Genomic analyses have recently illuminated our understanding of therapy-associated myeloid neoplasms in patients receiving therapy for other cancers. One of the most intriguing relationships between solid tumors and myeloid neoplasms involves a unique clinical entity of patients with germ cell tumors (GCT) and myeloid neoplasms. One in 17 patients with primary mediastinal germ cell tumor (PMGCT) develops a hematologic malignancy (most commonly AML, MDS, or histiocytosis) and the median survival in such patients is poor at only 5 months. Intriguingly, the presence of isochromosome 12p [i(12p)], a clonal marker common to GCTs but absent in de novo myeloid neoplasms, has been demonstrated as shared across GCTs and myeloid neoplasms in such individuals. While these data suggest a clonal relationship between the two, the exact nature of the shared origin is unknown. There are two competing hypotheses to explain this: (1) an embryonic progenitor with the capacity to differentiate into germ cell and hematopoietic lineages harbors the initiating genetic alterations and drives development of both malignancies or (2) the leukemia is derived directly from GCTs with the capacity to differentiate into hematopoietic lineages. To trace the clonal evolution of these seemingly unrelated cancer types and identify recurrent genomic lesions in leukemias present in GCT patients, we applied whole exome sequencing (WES), targeted genomic analyses, and/or RNA-seq to leukemias, GCTs, and germline DNA in a series of patients with myeloid neoplasms and concurrent GCTs. We collected 12 patients with GCT and synchronously or metachronously occurring myeloid neoplasms (8 AML, 5 MDS/CMML, 2 histiocytic sarcoma (some had >1 hematologic malignancy)) with an average of 4 months between the two diagnoses. Consistent with prior reports, all were young men (median age 26) with PMGCT and nonseminomatous histology and a 3-month median survival from leukemia diagnosis (Fig. A). In each case, at least one copy number alteration or coding mutation was shared across the GCT and hematopoietic neoplasm, demonstrating the shared origin of both lesions. For example, half of the patients (6/12) carried i(12p) in both the GCT and hematopoietic neoplasm. In the i(12p) negative cases, somatic genetic alterations identified in the GCT were also found in the leukemia. The most common genomic alterations in leukemias beyond i(12p) included mutations activating RAS-PI3K-AKT signaling (including PTEN, RAS and PI3K isoform mutations) or inactivating TP53 (Fig. B). The only exception was a testicular-only GCT patient who developed clonally distinct acute promyelocytic leukemia; however, further analysis identified this as a chemotherapy-induced neoplasm with the PML-RARa breakpoint mapped to an etoposide sensitive area and this patient was not counted amongst the 12 cases. We next traced the evolutionary history of clonally related GCTs and leukemias based on cancer cell fraction of all coding mutations and copy number alterations using WES of DNA from each tumor type and finger nails. In each instance, we identified clonal evolution of the hematopoietic malignancies from antecedent precursors within the GCT. To illustrate this, a 19-year-old male developed successive diagnoses of histiocytic sarcoma, CMML, and AML within 18 months of GCT diagnosis. Lineage tracing by WES of each of these four individual cancers revealed that all four were clonally related, and the histiocytic sarcoma, CMML, and AML were all derived from the GCT with a common precursor giving rise to the three hematopoietic malignancies (Fig. C-D). Moreover, the histiocytic sarcoma evolved separately from CMML/AML in this patient, where the AML represented leukemic transformation from the CMML. These data conclusively demonstrate that myeloid neoplasms developing in patients with PMGCT represent secondary somatic differentiation of a hematologic progenitor from totipotent aberrant cells that are present in the GCT. Thus, GCT-associated leukemias have a unique ontogeny from de novo and/or secondary myeloid neoplasms, which originate from progenitors within the bone marrow. As such, GCT-associated leukemias have characteristic genomic alterations hallmarked by frequent i(12p) in combination with mutations activating RAS-PI3K-AKT signaling and inactivating TP53, and these patients do poorly even when treated with aggressive contemporary chemotherapy. Figure Figure. Disclosures Rampal: Jazz: Consultancy, Honoraria; Celgene: Honoraria; Constellation: Research Funding; Incyte: Honoraria, Research Funding; Stemline: Research Funding. Tallman:ADC Therapeutics: Research Funding; Orsenix: Other: Advisory board; AROG: Research Funding; Cellerant: Research Funding; AbbVie: Research Funding; Daiichi-Sankyo: Other: Advisory board; BioSight: Other: Advisory board.
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Valiev, T. T., G. Z. Seregin, I. N. Serebryakova, O. A. Chernyshova, N. A. Kupryshina, A. D. Palladina, E. N. Sholokhova, et al. "Blastic plasmacytoid dendritic cell neoplasm." Pediatric Hematology/Oncology and Immunopathology 18, no. 4 (December 31, 2019): 79–89. http://dx.doi.org/10.24287/1726-1708-2019-18-4-79-89.
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Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an extremely rare hematologic malignancy. Our view of the cellular origins of this kind of tumor has been changing dramatically with the emergence of new data on the molecular biological and immunological characteristics of the tumor. This article discusses the clinical features of BPDCN, as well as the cytological, morphological-immunological and molecular genetic criteria for BPDCN diagnosis. Taking into account the rare incidence of BPDCN, as well as its rather complex diagnostic procedure, which requires an extended diagnostic antibody panel, standard methods of therapy have not been developed. Chemotherapy protocols for acute lymphoblastic leukemia and acute myeloid leukemia are used, with/without subsequent autologous/allogeneic bone marrow transplantation, but the results remain unsatisfactory. For the first time in Russian cancer research, this article provides a description of BPDCN in a 14-year-old child. A detailed clinical analysis of this rare tumor is provided, as well as dermatoscopy results and a description of the histological, immunological and molecular features of BPDCN, from the point of view of differential diagnosis. Parents patients agreed to use personal data in research and publications.
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El Achi, Hanadi, Edouard Dupont, Shilpa Paul, and Joseph D. Khoury. "CD123 as a Biomarker in Hematolymphoid Malignancies: Principles of Detection and Targeted Therapies." Cancers 12, no. 11 (October 23, 2020): 3087. http://dx.doi.org/10.3390/cancers12113087.
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CD123, the α chain of the interleukin 3 receptor, is a cytokine receptor that is overexpressed in multiple hematolymphoid neoplasms, including acute myeloid leukemia, blastic plasmacytoid dendritic cell neoplasm, acute lymphoblastic leukemia, hairy cell leukemia, and systemic mastocytosis. Importantly, CD123 expression is upregulated in leukemic stem cells relative to non-neoplastic hematopoietic stem cells, which makes it a useful diagnostic and therapeutic biomarker in hematologic malignancies. Varying levels of evidence have shown that CD123-targeted therapy represents a promising therapeutic approach in several cancers. Tagraxofusp, an anti-CD123 antibody conjugated to a diphtheria toxin, has been approved for use in patients with blastic plasmacytoid dendritic cell neoplasm. Multiple clinical trials are investigating the use of various CD123-targeting agents, including chimeric antigen receptor-modified T cells (expressing CD123, monoclonal antibodies, combined CD3-CD123 dual-affinity retargeting antibody therapy, recombinant fusion proteins, and CD123-engager T cells. In this review, we provide an overview of laboratory techniques used to evaluate and monitor CD123 expression, describe the strengths and limitations of detecting this biomarker in guiding therapy decisions, and provide an overview of the pharmacologic principles and strategies used in CD123-targeted therapies.
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Hanamornroongruang, Suchanan, Chanon Neungton, and Malee Warnnissorn. "Extramedullary Hematopoiesis in the Uterine Cervix Associated with Tissue Repair." Case Reports in Obstetrics and Gynecology 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/626130.
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Extramedullary hematopoiesis (EMH) is the presence of hematopoietic precursors outside the bone marrow. This condition is usually associated with hematologic disorders. Although EMH can be found in almost every site in the body, female genital tract involvement is rare. The authors report EMH in the uterine cervix from a 64-year-old patient following cervical biopsy due to abnormal cervical cytology. Neither neoplasm nor hematologic disorder was detected before the diagnosis and after 1 year of follow up. To the best of our knowledge, this is the first reported case of EMH involving the uterine cervix which showed an association with tissue repair.
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Ho, Caleb, Yanming Zhang, Umut Aypar, Mariko Yabe, Filiz Sen, Maria E. Arcila, Ahmet Dogan, and Kseniya Petrova-Drus. "Myeloid/Histiocytic Neoplasms Associated with Germ Cell Tumors Harbor Shared Genetic Abnormalities Indicating a Clonal Relationship, Unique Molecular Pathogenesis and Cellular Origin." Blood 132, Supplement 1 (November 29, 2018): 3077. http://dx.doi.org/10.1182/blood-2018-99-115698.
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Abstract Introduction Neoplasms of different lineages that arise in the same patient and show a clonal relationship are exceedingly rare, but have been described in instances of histiocytic and myeloid/lymphoid neoplasms (Durham BH, et al. Blood 2017;130(2):176-80; Ansari J, et al. Eur J Haematol 2016;97(1):9-16). The clonal relationships can be demonstrated by shared genetic abnormalities such as translocations, somatic mutations, and other chromosomal level alterations. Nevertheless, a clonal link between germ cell tumors (GCT), a group of solid tumors derived from primitive stem cells, and hematologic malignancies has been less well-characterized. Relevant literature has mostly reported associations of GCT with acute leukemias, without a comprehensive assessment of genetic alterations (Mukherjee S et al. Ann Hematol 2017;96: 1435-39). To further characterize this phenomenon, we identified a small cohort of patients diagnosed with both GCT and any myeloid/histiocytic neoplasm. We evaluated their molecular and cytogenetic alterations, identifying shared and unique abnormalities, providing evidence of a clonal relationship between these two groups of neoplasms, which traditionally represent different cellular origins. Methods A search of the pathology database at a major referral center (Memorial Sloan-Kettering Cancer Center) was performed to identify patients diagnosed with GCT between 2012-2018, and had at least 1 prior or subsequent bone marrow biopsy. The medical records were reviewed for details of clinical presentations and evidence of myeloid neoplasm, with corresponding morphologic, cytogenetic, and molecular findings. The findings were correlated with the genetic alterations detected in the GCT during diagnostic work-up. Cytogenetic analyses include karyotyping, fluorescence in situ hybridization (FISH) studies for common abnormalities among myeloid neoplasms, and single nucleotide polymorphism (SNP) array for copy number gain/loss and copy neutral-loss of heterozygosity (CN-LOH). Molecular analyses include an amplicon capture-based next generation sequencing (NGS) assay for 49 genes relevant for hematologic malignancies, and MSK-IMPACTTM, a hybrid capture-based NGS assay for mutation and copy number alteration in 400+ genes. Somatic nature of the identified variants was confirmed on MSK-IMPACTTM by germline variant filtering with the aid of appropriate normal control samples (blood or nail). Results 8 patients with GCT diagnoses showed marrow findings consistent with or suspicious for involvement by myeloid/histiocytic neoplasms, with clinical presentations not typical for therapy-related myeloid neoplasms. The patients were predominantly male (n=6) and young (age range: 13-55, median=26.5). The GCT included mixed GCT (n=6), mature teratoma (n=1) and immature teratoma (n=1). The primary sites of involvement were mediastinum (n=4), testes (n=2), and ovaries (n=2). In all cases, the myeloid/histiocytic neoplasms and GCT were diagnosed in close proximity in time (range: <1 to 24 months). So far, cytogenetic and molecular data in 4 patients with mediastinal-based tumors showed shared alterations between the GCT and myeloid/histiocytic neoplasms, including isochromosome 12p in 3 patients, an alteration characteristic of GCT. Other shared alterations observed included identical mutations in TP53, PIK3CD, KRAS, BCOR; trisomy 1, 8, 21; gain of 21q; loss of 13q; and CN-LOH of 2q, 5q, 17p. Interestingly, in all 4 patients, the GCT and myeloid/histiocytic neoplasm each showed additional unique genetic alterations. Conclusion These findings suggest that a subset of patients with GCT can develop clonally-related myeloid/histiocytic neoplasms, with a relatively short latency period. The genetic changes seen in our cases are relatively less common in conventional myeloid neoplasms, suggesting unique molecular pathogenesis. Yolk sac component in the GCT, which has been described to harbor hematopoietic precursor cells, may contribute to pathogenesis (Orazi A, et al Cancer 1993;71(12):3873-81). Although the detailed pathogenic mechanism remains uncertain, we observed that in the cohort, the GCT and myeloid/histiocytic neoplasm each harbored additional unique genetic changes. This suggests the presence of a common neoplastic progenitor giving rise to neoplasms of different lineages, which subsequently accumulated additional alterations. Disclosures Ho: Invivoscribe, Inc.: Honoraria. Yabe:Y-mAbs Therapeutics: Consultancy. Arcila:Invivoscribe, Inc.: Consultancy, Honoraria.
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Tang, Mengxiang, Jason Zhu, Wenchang Zhang, and Oliver Crespo. "An automated data analysis strategy to identify and classify hematologic neoplasms (HEM3P.287)." Journal of Immunology 192, no. 1_Supplement (May 1, 2014): 51.16. http://dx.doi.org/10.4049/jimmunol.192.supp.51.16.
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Abstract Cell immunophenotyping using flow cytometry has historically been a powerful tool in screening and diagnosing hematologic neoplasms. The capability of flow cytometers to measure multiple markers simultaneously allows detecting and quantifying normal and aberrant immune cell populations in blood samples. However, analysis of multidimensional flow cytometry data remains cumbersome and limited to serial analysis of bivariate plots. The slow and visually-dependent method relies on an expert’s expertise to identify and gate immune cell populations based on the expression and intensity of targeted protein marker staining. This conventional gating method is subjective, time consuming, and hardly takes advantage of all the dimensionalities of the data. An automated data analysis strategy to identify abnormal populations and classify samples in a gating-free manner has been developed. This automated analysis contains algorithms to extract features from high dimensional data, merge features and create profile for each sample, and classify samples based on established profiles. This generalized analysis strategy could be applied to analyze multidimensional data. An application on hematologic neoplasm classification is presented here. More than 100 samples, including health and patient samples, stained with a same eight color antibody cocktail were acquired using a BD FACSCanto II, and was used to show the accuracy of the automated analysis method is higher than 90%.
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Li, Peng, Shobi Venkatachalam, Daniela Ospina Cordona, Lorena Wilson, Tibor Kovacsovics, Karen A. Moser, Rodney R. Miles, David B. Beck, Tracy George, and Srinivas K. Tantravahi. "A clinical, histopathological, and molecular study of two cases of VEXAS syndrome without a definitive myeloid neoplasm." Blood Advances 6, no. 2 (January 13, 2022): 405–9. http://dx.doi.org/10.1182/bloodadvances.2021005243.
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Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is caused by somatic mutations in UBA1 and is identified by a genotype-driven method. This condition affects unrelated men with adultonset inflammatory syndromes in association with hematologic manifestations of peripheral cytopenia and bone marrow myeloid dysplasia. Although bone marrow vacuolization restricted to myeloid and erythroid precursors has been identified in patients with VEXAS, the detailed clinical and histopathological features of peripheral blood and bone marrows remain unclear. The current case report describes the characteristic hematologic findings in patients with VEXAS, including macrocytic anemia, thrombocytopenia, marked hypercellular bone marrow with granulocytic hyperplasia, megaloblastic changes in erythroid precursors, and the absence of hematogones in addition to prominent vacuoles in myeloid and erythroid precursor cells. Characterizing the clinical and hematologic features helps to raise awareness and improve diagnosis of this novel, rare, but potentially underrecognized disease. Prompt diagnosis expands the general knowledgeable and understanding of this disease, and optimal management may prevent patients from developing complications related to this refractory inflammatory syndrome and improve the overall clinical outcome.
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Shomali, William, and Jason Gotlib. "Response Criteria in Advanced Systemic Mastocytosis: Evolution in the Era of KIT Inhibitors." International Journal of Molecular Sciences 22, no. 6 (March 15, 2021): 2983. http://dx.doi.org/10.3390/ijms22062983.
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Systemic mastocytosis (SM) is a rare clonal hematologic neoplasm, driven, in almost all cases, by the activating KIT D816V mutation that leads to the growth and accumulation of neoplastic mast cells. While patients with advanced forms of SM have a poor prognosis, the introduction of KIT inhibitors (e.g., midostaurin, and avapritinib) has changed their outlook. Because of the heterogenous nature of advanced SM (advSM), successive iterations of response criteria have tried to capture different dimensions of the disease, including measures of mast cell burden (percentage of bone marrow mast cells and serum tryptase level), and mast cell-related organ damage (referred to as C findings). Historically, response criteria have been anchored to reversion of one or more organ damage finding(s) as a minimal criterion for response. This is a central principle of the Valent criteria, Mayo criteria, and International Working Group-Myeloproliferative Neoplasms Research and Treatment and European Competence Network on Mastocytosis (IWG-MRT-ECNM) consensus criteria. Irrespective of the response criteria, an ever-present challenge is how to apply response criteria in patients with SM and an associated hematologic neoplasm, where the presence of both diseases complicates assignment of organ damage and adjudication of response. In the context of trials with the selective KIT D816V inhibitor avapritinib, pure pathologic response (PPR) criteria, which rely solely on measures of mast cell burden and exclude consideration of organ damage findings, are being explored as more robust surrogate of overall survival. In addition, the finding that avapritinib can elicit complete molecular responses of KIT D816V allele burden, establishes a new benchmark for advSM and motivates the inclusion of definitions for molecular response in future criteria. Herein, we also outline how the concept of PPR can inform a proposal for new response criteria which use a tiered evaluation of pathologic, molecular, and clinical responses.
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Lee, Jiwon, Da Seul Jeong, Hyunji Jeon, Jin Hee Kim, and Dong Yeon Kim. "Factors Affecting Intensive Care Unit Nurses’ Care Burden of Patients with Hematologic Neoplasm." Asian Oncology Nursing 22, no. 4 (2022): 235. http://dx.doi.org/10.5388/aon.2022.22.4.235.
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Wang, Xiaoyun. "Analysis of Humanistic Nursing Care in Regulating the Emotion, Satisfaction, and Sleep Quality of Inpatients with Hematologic Neoplasms." Proceedings of Anticancer Research 6, no. 5 (September 9, 2022): 26–31. http://dx.doi.org/10.26689/par.v6i5.4288.
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Objective: To explore the clinical application value of humanistic nursing care in the treatment of hematologic neoplasm inpatients. Methods: Fifty-two patients with hematologic neoplasms admitted to a hospital from May 2019 to February 2022 were selected as the research subjects. According to a random number table, they were divided into two groups: the control group (n = 25, routine clinical nursing) and the observation group (n = 27, humanistic nursing care). The negative emotion score, nursing satisfaction, and sleep quality were compared between the two groups under different nursing modes. Results: The SAS and SDS scores before and after nursing were compared between the two groups. There was no significant difference between the two groups before nursing (p > 0.05). However, the SDS and SAS scores in the two groups after nursing were lower than those before nursing, in which the observation group was slightly lower than the control group, and the difference was statistically significant (p < 0.001). In terms of nursing satisfaction, it was as high as 96.29% in the observation group, whereas in the control group, the satisfaction rate was only 72.00%; the PSQI scores were compared between the two groups before and after nursing, and there was no significant difference between the two groups before nursing (p > 0.05). However, the PSQI scores and total score of the observation group after nursing were lower than those of the control group (p < 0.001). Conclusion: In the clinical treatment of patients with hematologic neoplasms, the implementation of humanistic nursing care can significantly improve patients’ anxiety, depression, other negative emotions, sleep quality, and nursing satisfaction, all of which have significance in promoting the prognosis of patients and improving their quality of life.
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Walz, Christoph, Philipp Erben, Michael Ritter, Adrian Bloor, Georgia Metzgeroth, Nick Telford, Claudia Haferlach, et al. "Response of ETV6-FLT3–positive myeloid/lymphoid neoplasm with eosinophilia to inhibitors of FMS-like tyrosine kinase 3." Blood 118, no. 8 (August 25, 2011): 2239–42. http://dx.doi.org/10.1182/blood-2011-03-343426.
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Abstract Imatinib-resistant tyrosine kinase (TK) fusions involving FGFR1, JAK2, or FLT3 are rare but recurrent in patients with eosinophilia-associated neoplasms. We report here 2 male patients with ETV6-FLT3+ myeloid/lymphoid neoplasms with eosinophilia who were treated with the multitargeted TK inhibitors sunitinib and sorafenib. Patient 1 achieved rapid complete hematologic response and complete cytogenetic response after 3 months of taking sunitinib. A secondary blast phase caused by clonal evolution was diagnosed after 6 months. He achieved a second complete hematologic response after taking sorafenib but relapsed 2 months later. An N841K point mutation within the TK domain of FLT3, previously reported in acute myeloid leukemia and potentially conferring resistance to sorafenib, was subsequently identified. Patient 2 was heavily pretreated according to the initial diagnosis of T-lymphoblastic lymphoma and died in sunitinib-induced pancytopenia. This report highlights the importance of a careful diagnostic workup for eosinophilia-associated neoplasms to evaluate the possibility of TK inhibitor therapy.
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Wong, Hannah H., and Jun Wang. "Merkel Cell Carcinoma." Archives of Pathology & Laboratory Medicine 134, no. 11 (November 1, 2010): 1711–16. http://dx.doi.org/10.5858/2009-0165-rsr2.1.
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Abstract Merkel cell carcinoma is a rare, highly aggressive neuroendocrine cutaneous neoplasm with a variable clinical presentation. Histologically, it is a predominantly dermal-based lesion composed of monotonous small round cells with scanty cytoplasm, often difficult to differentiate from small round cell tumors, metastatic small cell carcinoma, blastic hematologic malignancies, and melanoma. The malignant cells express both epithelial and neuroendocrine immunohistochemical markers, a unique feature that helps differentiate this neoplasm from other entities. The pathogenesis of Merkel cell carcinoma has remained a mystery despite its association with various chromosomal abnormalities and with growth signaling and apoptotic pathways. The discovery of the Merkel cell polyomavirus suggests another clue to its pathogenesis. This virus integrates into band 3p14 and promotes carcinogenesis by altering the activity of tumor suppressor and cell cycle regulatory proteins. This discovery of the Merkel cell polyomavirus may greatly enhance our understanding of this rare aggressive neoplasm and allow further advancements in treatment.
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Laredo, Viviana, Sandra García-Mateo, Samuel J. Martínez-Domínguez, Julia López de la Cruz, Carla J. Gargallo-Puyuelo, and Fernando Gomollón. "Risk of Cancer in Patients with Inflammatory Bowel Diseases and Keys for Patient Management." Cancers 15, no. 3 (January 31, 2023): 871. http://dx.doi.org/10.3390/cancers15030871.
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Chronic inflammation in patients with Inflammatory Bowel Disease (IBD) leads to an increased risk of colorectal cancer, small bowel cancer, intestinal lymphoma and cholangiocarcinoma. However, treatments for IBD have also been associated with an increased risk of neoplasms. Patients receiving Thiopurines (TPs) have an increased risk of hematologic malignancies, non-melanoma skin cancer, urinary tract neoplasms and cervical cancer. Anti-TNFs have been associated with a higher risk of neoplasms, mainly lymphomas and melanomas; however, the data are controversial, and some recent studies do not confirm the association. Nevertheless, other biologic agents, such as ustekinumab and vedolizumab, have not shown an increased risk of any neoplasm to date. The risk of malignancies with tofacitinib exists, but its magnitude and relationship with previous treatment with TPs is not defined, so more studies from daily clinical practice are needed. Although biologic therapy seems to be safe for patients with current cancer or a prior history of cancer, as has been demonstrated in other chronic inflammatory conditions, prospective studies in this specific population are needed. Until that time, it is crucial to manage such conditions via the combined clinical expertise of the gastroenterologist and oncologist.
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Verma, Dushyant, Hagop Kantarjian, Sara S. Strom, Mary Beth Rios, Elias Jabbour, Alfonso Quintas-Cardama, Srdan Verstovsek, Farhad Ravandi, Susan O'Brien, and Jorge Cortes. "Malignancies occurring during therapy with tyrosine kinase inhibitors (TKIs) for chronic myeloid leukemia (CML) and other hematologic malignancies." Blood 118, no. 16 (October 20, 2011): 4353–58. http://dx.doi.org/10.1182/blood-2011-06-362889.
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Abstract Success of tyrosine kinase inhibitors (TKIs) in chronic myeloid leukemia (CML) has given patients hope for a long disease-free-survival. A longer survival raises the question of late effects, including development of another malignancy. Records of 1445 patients with CML/myeloproliferative neoplasm or other hematologic malignancies treated with TKIs were reviewed to investigate frequency and characteristics of second malignancies (other than acute myeloid leukemia, acute lymphocytic leukemia, or myelodysplastic syndrome). The number of second cancers was compared with the number expected from the Surveillance, Epidemiology, and End Results database. After a median follow-up of 107 months (range, 13-362 months) after CML/myeloproliferative neoplasm diagnosis, 66 patients (4.6%) developed 80 second cancers, including skin (31%), prostate (15%), melanoma (13%), digestive system (10%), kidney (4%), thyroid (4%), breast (3%), chronic lymphocytic leukemia (3%), hepatobiliary (3%), and other cancers (14%). Excluding nonmelanoma skin cancers, 55 second cancers were seen in 51 (3.5%) of all patients treated. The risk of second cancer was lower than expected (observed-to-expected ratio, 0.6; 95% confidence interval, 0.44-0.81). Second cancers occur in a small percentage of patients receiving therapy with TKIs for hematologic malignancies, mostly CML. No evidence at the moment suggests that exposure to TKIs increases the risk of developing second cancers.
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Chen, Ing, Jia-Bin Liao, Jung-Chia Lin, Pin-Pen Hsieh, and Ming-Yun Hsieh. "Mast Cell Sarcoma of the Retroperitoneum With Concurrent Systemic Mastocytosis and an Undisclosed Associated Hematologic Neoplasm: A Case Report." Clinical Pathology 15 (January 2022): 2632010X2211235. http://dx.doi.org/10.1177/2632010x221123539.
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Mastocytosis is a rare disorder affecting both children and adults by gathering of functionally defective mast cells in the body’s tissues. The World Health Organization (WHO) classified mastocytosis into cutaneous mastocytosis, systemic mastocytosis (SM), and mast cell sarcoma (MCS). We hereby present a case of retroperitoneal MCS with concurrent systemic mastocytosis and an undisclosed associated hematological neoplasm (SM-undisclosed AHN). The diagnosis of MCS and SM was made after the second biopsy over retroperitoneal mass, lymph node, and ovary for rapidly progressive disease with the presentation of unexplained recurrent flushing, palpitation, and shock, in addition to abdominal pain. A clonal myeloid neoplasm was also suspected by the karyotype and hemogram data. Unfortunately, the patient succumbed to the disease quickly. Apart from this unique case, the previously reported cases of SM with MCS in the literature were also reviewed.
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Lin, Wen-Ying, Hsin-Hui Wang, Yi-Wei Chen, Chun-Fu Lin, Hueng-Chuen Fan, and Yi-Yen Lee. "Gene Modified CAR-T Cellular Therapy for Hematologic Malignancies." International Journal of Molecular Sciences 21, no. 22 (November 17, 2020): 8655. http://dx.doi.org/10.3390/ijms21228655.
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With advances in the understanding of characteristics of molecules, specific antigens on the surface of hematological malignant cells were identified and multiple therapies targeting these antigens as neoplasm treatments were developed. Among them, chimeric antigen receptor (CAR) T-cell therapy, which got United States Food and Drug Administration (FDA) approval for relapsed/refractory (r/r) diffuse large B-cell lymphoma (DLBCL) as well as for recurrent acute lymphoblastic leukemia (ALL) within the past five years, and for r/r mantle cell lymphoma (MCL) this year, represents one of the most rapidly evolving immunotherapies. Nevertheless, its applicability to other hematological malignancies, as well as its efficacy and persistence are fraught with clinical challenges. Currently, more than one thousand clinical trials in CAR T-cell therapy are ongoing and its development is changing rapidly. This review introduces the current status of CAR T-cell therapy in terms of the basic molecular aspects of CAR T-cell therapy, its application in hematological malignancies, adverse reactions during clinical use, remaining challenges, and future utilization.
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Reszka, Edyta, Ewa Jabłońska, Edyta Wieczorek, Peter Valent, Michel Arock, Gunnar Nilsson, Bogusław Nedoszytko, and Marek Niedoszytko. "Epigenetic Changes in Neoplastic Mast Cells and Potential Impact in Mastocytosis." International Journal of Molecular Sciences 22, no. 6 (March 15, 2021): 2964. http://dx.doi.org/10.3390/ijms22062964.
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Systemic mastocytosis (SM) is a hematologic neoplasm with abnormal accumulation of mast cells in various organ systems such as the bone marrow, other visceral organs and skin. So far, only little is known about epigenetic changes contributing to the pathogenesis of SM. In the current article, we provide an overview of epigenetic changes that may occur and be relevant to mastocytosis, including mutations in genes involved in epigenetic processes, such as TET2, DNMT3A and ASXL1, and global and gene-specific methylation patterns in neoplastic cells. Moreover, we discuss methylation-specific pathways and other epigenetic events that may trigger disease progression in mast cell neoplasms. Finally, we discuss epigenetic targets and the effects of epigenetic drugs, such as demethylating agents and BET-targeting drugs, on growth and viability of neoplastic mast cells. The definitive impact of these targets and the efficacy of epigenetic therapies in advanced SM need to be explored in future preclinical studies and clinical trials.