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Klein, Kim, Martin Zimmermann, Berna Beverloo, Christine von Neuhoff, Valerie De Haas, Romy van Weelderen, Susana C. Raimondi, et al. "The Prognostic Impact of Cytogenetics and Karyotype Changes in Pediatric Patients with Relapsed Acute Myeloid Leukemia: A Retrospective Cohort Study within the Relapsed AML 2001/01 Study." Blood 128, no. 22 (December 2, 2016): 2896. http://dx.doi.org/10.1182/blood.v128.22.2896.2896.
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Abstract Introduction After treatment response, cytogenetics and molecular aberrations are the most important prognostic factors in children with de novo acute myeloid leukemia (AML). However, little is known about the impact of cytogenetics at relapse. This international retrospective study aimed to provide insight into the prognostic impact of cytogenetic profiles and the role of karyotype changes from diagnosis to relapse in pediatric patients with relapsed AML. Methods Cytogenetic reports from patients registered to the Relapsed AML 2001/01 Study and diagnosed between 2001 and 2010 were centrally reviewed and classified by two independent researchers plus a cytogenetic expert. Patients with refractory or relapsed AML and available cytogenetics at relapse were included in order to assess the prognostic impact of different cytogenetic subgroups at relapse. Patients with karyotypes available at both diagnosis and relapse were included in order to study the impact of karyotype changes. Recurrent cytogenetic aberrations present in ≥5 patients defined the subgroups. Changes at relapse were categorized as: no change, gain, loss, both gain and loss, or structural other aberration(s). Primary endpoints were the probabilities of event-free survival (pEFS) and overall survival (pOS). Univariate analyses were conducted using chi-square tests, binary univariate logistic regression or Kaplan Meier estimates with a log-rank test. Multivariable Cox regression analyses were conducted to evaluate the independent impact of cytogenetic profiles and karyotype changes at relapse. For these analyses, cytogenetic subgroups were regrouped into good risk (GR) cytogenetics [t(8;21)(q22;q22) or inv(16)/t(16;16)(p13.1;q22)] or "other". Results Of the 569 registered patients, 402 patients (71%) had available cytogenetic information at relapse. Frequently detected aberrations at relapse were t(8;21) (n=60, 15%) and inv(16)/t(16;16) (n=24, 6%), both indicating a relatively good prognosis. Although patient numbers were small (n=5), t(6;9)(p23;q34) also had a relatively good outcome. Monosomy 7/7q-, t(9;11)(p22;q23), t(10;11)(p12;q23) and complex karyotypes had a relatively poor outcome. Figure 1 shows the Kaplan Meier curves of the investigated cytogenetic subgroups with corresponding patient numbers. In total, 306 patients (54%) with available karyotypes at both diagnosis and relapse were included to study cytogenetic changes. Patients with any change (n=148, 48%) had inferior outcome compared to patients without changes (3-year pEFS 21% [SE, 3.4%] versus 39% [SE, 3.9%]; overall P<0.01). Patients with both loss and gain or structural other aberrations had the worst outcome at the univariate level. After multivariable adjustment (final models including cytogenetics at relapse, time to relapse </≥ 1 year and type of change), having both gain and loss of aberrations remained associated with inferior pEFS and pOS (Hazard Ratio [HR] 2.10 [95% confidence interval (CI) 1.17-3.76] and HR 2.18 [95% CI 1.19-3.99] respectively). Having structural other aberrations at relapse was also associated with inferior pEFS (HR 1.81 [95% CI 1.03-3.18]). GR cytogenetics at relapse were significantly associated with better early treatment response. Subsequently, response to treatment at day 28 (Creutzig et al. Haematologica 2014) was an important mediator. If this prognostic parameter was included in the models, the effect of changes diminished, but GR cytogenetics at relapse remained an important prognostic factor associated with superior outcome (pEFS: HR 0.53 [95% CI 0.35-0.81], pOS: HR 0.51 [95% CI 0.32-0.80]). Conclusion Together with early treatment response, the cytogenetic profile at relapse is an important prognostic factor. In particular t(8;21) and inv(16)/t(16;16) at relapse were associated with a favorable outcome. Furthermore, cytogenetic changes between diagnosis and relapse were associated with inferior outcome. Future studies should explore the mechanism(s) of these changes, being either clonal evolution or clonal selection. Interpretation of our results is hampered by the retrospective design of the study, small subgroup numbers and missing cytogenetic and molecular data. Nonetheless, these findings suggest that assessing cytogenetics at time of relapse is of high importance, and can be used for risk group adapted treatment. Disclosures Reinhardt: Boehringer Ingelheim: Membership on an entity's Board of Directors or advisory committees; Pfizer: Membership on an entity's Board of Directors or advisory committees; Jazz Pharma: Other: Travel Accomodation; Celgene: Membership on an entity's Board of Directors or advisory committees; Celgene: Research Funding.
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Hall, K. J., J. S. Parker, and T. H. N. Ellis. "The relationship between genetic and cytogenetic maps of pea. I. Standard and translocation karyotypes." Genome 40, no. 5 (October 1, 1997): 744–54. http://dx.doi.org/10.1139/g97-797.
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A detailed cytogenetical study of inbred lines of pea and their F1 hybrids has been undertaken to study the relationship between the cytogenetic map and the molecular linkage map. The mitotic karyotypes of a standard pea line, JI15, a translocation line, JI61, and line JI281, a line used in the production of a mapping population, are given. A chromosome rearrangement detected by cytogenetic analysis of mitotic chromosomes has been further defined by synaptonemal complex (SC) analysis and the study of metaphase I chromosome behaviour. This meiotic analysis has allowed a comparison of SC physical lengths, observed chiasma frequencies, and recombination frequencies, as estimated from the genetic map, as a means of comparing physical and genetic distances.Key words: Pisum, linkage map, cytogenetics, chromosome rearrangement, synaptonemal complex.
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Vance, Gail H., Haesook Kim, Gary Hicks, Athena Cherry, Rodney Higgins, Martin S. Tallman, Hugo F. Fernandez, and Gordon Dewald. "Utility of Interphase FISH To Stratify Patients into Cytogenetic Risk Categories at Diagnosis of AML in an ECOG Clinical Trial (E1900)." Blood 106, no. 11 (November 16, 2005): 2377. http://dx.doi.org/10.1182/blood.v106.11.2377.2377.
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Abstract Background: Cytogenetic risk categories based on conventional chromosome studies are widely used in clinical practice to make treatment decisions for AML. We evaluated the efficacy of interphase FISH to detect chromosome anomalies in the workup of young (<60 years) patients with AML. Methods: Study subjects were enrolled in E1900, a front-line Eastern Cooperative Oncology Group (ECOG) clinical trial for AML. This is an on-going Phase III clinical trial with Daunorubicin dose-intensification ± Gemtuzumab-Ozogamicin consolidation therapy prior to stem cell transplant. This trial opened December 2002; as of February 2005, 223 patients were enrolled. The protocol was designed to collect bone marrow for both cytogenetic and FISH studies at study entry (diagnosis). Cytogenetic studies were done by local laboratories with results reviewed centrally by the ECOG Cytogenetics Committee. Each case was classified as acceptable or unacceptable based on predefined ECOG cytogenetic criteria. FISH for each patient was performed in the ECOG FISH laboratory at Mayo Clinic and utilized eight probe sets to detect t(8;21), t(9;22), t(11;var), t(15;17), inv(16), +8, −5/5q, and −7/7q (Vysis, Downer Grove, IL). Results: 64 (29%) of 223 specimens had incomplete cytogenetic and/or FISH results. We analyzed the remaining 159 (71%) specimens with complete cytogenetic and FISH results. Results for each specimen were classified by probe set into one of the following categories: Normal cytogenetics and normal FISH; Abnormal cytogenetics and abnormal FISH for the anomaly the probe was designed to detect; Abnormal cytogenetics and abnormal FISH for an anomaly the probe was not primarily designed to detect; Normal cytogenetics and abnormal FISH; Abnormal cytogenetics and normal FISH; or Abnormal cytogenetics and abnormal FISH that further defined the karyotype. Figure 1: Results for 159 patients by category and FISH probe set: *t(8;21); t(9;22); t(11;var); t(15;17); inv(16); cen(8); del(5/5q); de(7/7q). Figure 1:. Results for 159 patients by category and FISH probe set: *t(8;21); t(9;22); t(11;var); t(15;17); inv(16); cen(8); del(5/5q); de(7/7q). The concordance rate between cytogenetic and FISH results ranged from 97 to 100% for all probe sets and kappa analysis for concordance had a p value of <0.0001. Of the total 159 cases, discrepancies between FISH and cytogenetic results occurred in only 4 cases; two with normal cytogenetics and abnormal FISH and two with abnormal cytogenetics and normal FISH results. Conclusions: The high level of agreement between cytogenetics and FISH demonstrates the accuracy of a panel of 8 FISH probe sets for the detection of significant abnormalities in AML. The data from this investigation support the use of FISH as an adjunct in cases of failed cytogenetic analyses to increase the yield of useful cytogenetic results in large cooperative trials. Furthermore, because of the strong correlation between cytogenetics and FISH, our results demonstrate the potential of FISH as a follow-up study of minimal residual disease in ECOG trials.
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Kulkarni, Vinayak, Seema Korgaonkar, and Babu Rao Vundinti. "Clinical and Cytogenetic Study in Primary Amenorrhea." Indian Journal of Anatomy 5, no. 3 (2016): 317–20. http://dx.doi.org/10.21088/ija.2320.0022.5316.21.
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Sebert, Marie, Rami S. Komrokji, Mikkael A. Sekeres, Thomas Prebet, Thomas Cluzeau, Valeria Santini, Alessandro Sanna, et al. "Impact Of Cytogenetics and Cytogenetic Response On Outcome In Myelodysplastic Syndromes (MDS) treated With Azacitidine (AZA). A Collaborative Study In 878 Patients." Blood 122, no. 21 (November 15, 2013): 389. http://dx.doi.org/10.1182/blood.v122.21.389.389.
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Abstract Background hypomethylating agents, especially AZA, have become the reference standard for the of higher risk MDS, but the prognostic value of baseline cytogenetics on response to AZA, and the impact of cytogenetic response (CyR) on outcome in responders remain uncertain. Methods We collected data from 931 MDS patients (including FAB RAEB-T/WHO AML 20-30% blasts), treated with AZA (75mg/m²/d x7d, for a median of 6 cycles [range 1-72]) in 6 centers in the US, Italy and France between January 2002 and March 2013. Median age was 70 years (range 24-91 years), and 35% of the patients were women. Cytogenetics at onset of AZA was evaluable in 878 pts (the remaining pts had cytogenetic failure), 581 (66%) of whom had abnormal karyotype, as shown in table 1. Revised (R) IPSS cytogenetic category (Shanz, JCO 2012) was very good, good, int, poor and very poor in 2%, 40%, 18%, 15% and 25% pts respectively. R-IPSS was very good, good, intermediate, poor and very poor in 1%, 4%, 17%, 35% and 43% respectively. Results 379 (41%) pts achieved hematological IWG 2006 response, including 121 (13%) CR, 86 (9%) PR, 52 (6%) marrow CR, 120 (13%) stable disease with HI. With a median follow up of 41 months, median OS was 16.5 months. Cytogenetic characteristics are summarized in table 1. In the following text, unless specified, results apply to chromosomal rearrangements occurring alone or with additional abnormalities (abn). Trisomy 8 and del(5q)/-5 were associated with significantly better CR rate (21% and 18.5% , respectively, vs 12% in other patients p=0.007 and 0.01, resp.). 3q26 was associated with lower overall response rate (ORR) (22% vs 42%, p=0.04) and only 1/27 of 3q26 pts achieved CR. None of the other cytogenetic specific abnormalities or groups (table 1) and none of the R-IPSS cytogenetic categories had any significant impact on ORR or CR to AZA. Among patients with complex Karyotype (>=3), monosomal karyotype had no influence on response to AZA. When the comparison was made versus patients with normal cytogenetics, presence of -7/del(7q), del(5q)/-5, del(17p), 3q26, monosomal karyotype and complex (>=3) karyotype had no significant impact on the response rate. Compared to other patients, patients with -7/del(7q) (p<10-4), del(5q)/-5 (p<10-4), monosomal karyotype (p<10-4), del (17p) (p<10-4) had significantly shorter OS; isolated del(20q) pts had significantly better OS and isolated del 5q pts a trend for better OS (p=0.006 and 0.09, respectively) while +8 (p=0.40) , 3q26 abn (p=0.13), del(11q) (p=0.96) had no significant influence on survival. R-IPSS cytogenetic categories had also a strong impact on OS (p<10-4). Of note, among pts with complex karyotype (>=3), those with very complex karyotype (>=5) had shorter OS (median 11.1 vs 15.4 mo, p=0.008). When the comparison was made versus patients with normal cytogenetics, presence of -7/del(7q), del(5q), del(17p), 3q26 , monosomal karyotype and complex (>=3) karyotype were associated with significantly shorter OS. By multivariate analysis (including cytogenetic R-IPSS categories, del 20q, 7/del(7q) , del(5q)/-5, del (17p) , 3q26 , complex and monosomal karyotype), only the presence of del (17p) (HR 1.54[1.14-2.10], p=0.005), -7/del(7q) (HR 1.23 [1.01-1.50], p=0.04) and del(5q) (HR 1.36[1.08-1.72], p=0.009) retained significant impact on OS. 362 pts with abnormal cytogenetics at onset of AZA had cytogenetic analysis at treatment evaluation, and results were evaluable in 327 of them (the other 35 pts had cytogenetic failure): 106 (32.4%) achieved cytogenetic response (CyR), including 82 (25%) Complete CyR (CCyR), and 24 (7.3%) Partial CyR (PCyR), while 221 (67.6%) had no CyR. Of note, among the 106 cytogenetic responders, 29 (27%) had failed to achieve any hematological response. In a landmark analysis performed 3 months after AZA onset, achievement of any CyR or of CCyR had no significant influence on survival, even when the analysis was restricted to patients who achieved IWG response. Conclusion Baseline cytogenetic pattern generally did not predict response to AZA (except the presence of +8 or del(5q), associated with higher CR rate, and 3q26 abn with fewer responses). However, cytogenetic results were strong predictors of survival, especially del (17p), -7/del(7q) and del(5q) associated with significant shorter OS in multivariate analysis. In patients with baseline cytogenetic abnormalities, achieving cytogenetic response was not associated with outcome. Disclosures: Komrokji: Celgene: Research Funding, Speakers Bureau. Santini:Celgene: Honoraria; Novartis: Honoraria; GSK: Honoraria; Janssen: Honoraria. List:Celgene: Research Funding. Fenaux:CELGENE: Research Funding.
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Cirakoglu, Ayse, Rahiye Dilhan Kuru, Sukriye Yilmaz, Ayhan Deviren, Seniz Ongoren, Fevzi Firat Yalniz, Dilek Keskin, et al. "Cytogenetic profile of adult AML patients in Turkey: a single center study with comprehensive comparison with literature." African Health Sciences 22, no. 3 (October 27, 2022): 183–91. http://dx.doi.org/10.4314/ahs.v22i3.21.
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Background: Cytogenetic findings are important prognostic factors in acute myeloid leukemia. Large systematic data about chromosomal characteristics of Turkish AML patients have not been reported to date.
Objectives: The karyotypic profiles of 157 adult AML patients were evaluated retrospectively and compared with other reports from different populations.
Methods: Cytogenetics analyses were performed on bone marrow samples using G-banding. Patients were categorized according to their cytogenetic results into four groups with the addition of a normal karyotyped group to the favorable, intermediate and adverse groups of European Leukemia Network.
Results: Cytogenetic analyses were carried out successfully in 138 patients (88%). Abnormal karyotypes were found in 79 (57.2%) patients of which 13 (9.4%) were in favorable, 37 (26.8%) in intermediate and 29 (21%) in adverse groups. t(8;21) (5%) was the most common favorable abnormality while monosomal karyotypes (15.9%) in adverse group.
Conclusion: This single center study is the most comprehensive study about the cytogenetic profile of acute myeloid leukemia in Turkey with comparison of other population-based studies. While there were similarities and differences with different publications, our results did not show a marked tendency to the findings of any specific geographic region.
Keywords: Acute myeloid leukemia; cytogenetics; chromosomal abnormalities; adult.
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Slovak, Marilyn L., Kenneth J. Kopecky, Peter A. Cassileth, David H. Harrington, Karl S. Theil, Anwar Mohamed, Elizabeth Paietta, et al. "Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia: a Southwest Oncology Group/Eastern Cooperative Oncology Group study." Blood 96, no. 13 (December 15, 2000): 4075–83. http://dx.doi.org/10.1182/blood.v96.13.4075.
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Abstract The associations of cytogenetics with complete remission (CR) rates, overall survival (OS), and outcomes after CR were studied in 609 previously untreated AML patients younger than 56 years old in a clinical trial comparing 3 intensive postremission therapies: intensive chemotherapy, autologous transplantation (ABMT), or allogeneic bone marrow transplantation (alloBMT) from matched related donors. Patients were categorized into favorable, intermediate, unfavorable, and unknown cytogenetic risk groups based on pretreatment karyotypes. CR rates varied significantly (P < .0001) among the 4 groups: favorable, 84% (95% confidence interval [CI], 77%-90%); intermediate, 76% (CI, 71%-81%); unfavorable, 55% (CI, 48%-63%); and unknown, 54% (CI, 33%-74%). There was similar significant heterogeneity of OS (P < .0001), with the estimated relative risk of death from any cause being 1.50 (CI, 1.10-2.05), 3.33 (CI, 2.43-4.55), and 2.66 (CI, 1.59-4.45) for the intermediate, unfavorable, and unknown risk groups, respectively, compared with the favorable group. In multivariate analyses, the effects of cytogenetic risk status on CR rate and OS could not be explained by other patient or disease characteristics. Among postremission patients, survival from CR varied significantly among favorable, intermediate, and unfavorable groups (P = .0003), with significant evidence of interaction (P = .017) between the effects of treatment and cytogenetic risk status on survival. Patients with favorable cytogenetics did significantly better following ABMT and alloBMT than with chemotherapy alone, whereas patients with unfavorable cytogenetics did better with alloBMT. Cytogenetic risk status is a significant factor in predicting response of AML patients to therapy; however, to tighten treatment correlates within genetically defined AML subsets, a significantly larger leukemia cytogenetic database is warranted.
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Slovak, Marilyn L., Kenneth J. Kopecky, Peter A. Cassileth, David H. Harrington, Karl S. Theil, Anwar Mohamed, Elizabeth Paietta, et al. "Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia: a Southwest Oncology Group/Eastern Cooperative Oncology Group study." Blood 96, no. 13 (December 15, 2000): 4075–83. http://dx.doi.org/10.1182/blood.v96.13.4075.h8004075_4075_4083.
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The associations of cytogenetics with complete remission (CR) rates, overall survival (OS), and outcomes after CR were studied in 609 previously untreated AML patients younger than 56 years old in a clinical trial comparing 3 intensive postremission therapies: intensive chemotherapy, autologous transplantation (ABMT), or allogeneic bone marrow transplantation (alloBMT) from matched related donors. Patients were categorized into favorable, intermediate, unfavorable, and unknown cytogenetic risk groups based on pretreatment karyotypes. CR rates varied significantly (P < .0001) among the 4 groups: favorable, 84% (95% confidence interval [CI], 77%-90%); intermediate, 76% (CI, 71%-81%); unfavorable, 55% (CI, 48%-63%); and unknown, 54% (CI, 33%-74%). There was similar significant heterogeneity of OS (P < .0001), with the estimated relative risk of death from any cause being 1.50 (CI, 1.10-2.05), 3.33 (CI, 2.43-4.55), and 2.66 (CI, 1.59-4.45) for the intermediate, unfavorable, and unknown risk groups, respectively, compared with the favorable group. In multivariate analyses, the effects of cytogenetic risk status on CR rate and OS could not be explained by other patient or disease characteristics. Among postremission patients, survival from CR varied significantly among favorable, intermediate, and unfavorable groups (P = .0003), with significant evidence of interaction (P = .017) between the effects of treatment and cytogenetic risk status on survival. Patients with favorable cytogenetics did significantly better following ABMT and alloBMT than with chemotherapy alone, whereas patients with unfavorable cytogenetics did better with alloBMT. Cytogenetic risk status is a significant factor in predicting response of AML patients to therapy; however, to tighten treatment correlates within genetically defined AML subsets, a significantly larger leukemia cytogenetic database is warranted.
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Bayani, Jane, Ajay Pandita, and Jeremy A. Squire. "Molecular cytogenetic analysis in the study of brain tumors: findings and applications." Neurosurgical Focus 19, no. 5 (November 2005): 1–36. http://dx.doi.org/10.3171/foc.2005.19.5.2.
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Classic cytogenetics has evolved from black and white to technicolor images of chromosomes as a result of advances in fluorescence in situ hybridization (FISH) techniques, and is now called molecular cytogenetics. Improvements in the quality and diversity of probes suitable for FISH, coupled with advances in computerized image analysis, now permit the genome or tissue of interest to be analyzed in detail on a glass slide. It is evident that the growing list of options for cytogenetic analysis has improved the understanding of chromosomal changes in disease initiation, progression, and response to treatment. The contributions of classic and molecular cytogenetics to the study of brain tumors have provided scientists and clinicians alike with new avenues for investigation. In this review the authors summarize the contributions of molecular cytogenetics to the study of brain tumors, encompassing the findings of classic cytogenetics, interphase- and metaphase-based FISH studies, spectral karyotyping, and metaphase- and array-based comparative genomic hybridization. In addition, this review also details the role of molecular cytogenetic techniques in other aspects of understanding the pathogenesis of brain tumors, including xenograft, cancer stem cell, and telomere length studies.
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Gangat, Naseema, Jacob J. Strand, Terra L. Lasho, Christy M. Finke, Ryan A. Knudson, Animesh Pardanani, Chin-Yang Li, Rhett P. Ketterling, and Ayalew Tefferi. "Cytogenetic Studies at Diagnosis in Polycythemia Vera: Clinical and JAK2V617F Allele Burden Correlates." Blood 110, no. 11 (November 16, 2007): 2545. http://dx.doi.org/10.1182/blood.v110.11.2545.2545.
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Abstract Background: Previous cytogenetic studies in polycythemia vera (PV) have included a relatively small number of patients (“n” ranging 10–64). In the current study (n=137), we describe cytogenetic findings at presentation and examine their relationship to clinical and laboratory features, including bone marrow JAK2V617F allele burden. Methods: The study consisted of a consecutive group of patients with PV who fulfilled the World Health Organization (WHO) diagnostic criteria and in whom bone marrow biopsy and cytogenetic studies were performed at diagnosis. Results I: cytogenetic details At diagnosis: A total of 137 patients (median age, 64 years; 49% females) were studied at diagnosis and had adequate metaphases for interpretation. Cytogenetics were normal in 117 patients (85%) and displayed either a sole -Y abnormality in 5 patients (7% of the male patients), and other chromosomal abnormalities in 15 (11%). The latter included trisomy 8 in five patients, trisomy 9 in three patients, two patients each with del(13q), del(20q), and abnormalities of chromosome 1, and one patient each with del(3)(p13p21), dup(13)(q12q14), and del(11)(q21). At follow-up: Repeat cytogenetic studies while still in the chronic phase of the disease were performed in 19 patients at a median of 60 months (range, 8–198) from diagnosis. Of these, 4 had aquired new cytogenetic clones including 3 with normal cytogenetics at time of initial PV diagnosis. The new abnormalities included del(20q), del(5q), del(1p), chromosome 1 abnormality, and inv(3)(q21q26.2). At time of disease transformation: Leukemic transformation was documented in 3 patients of whom cytogenetic information at the time was available in 2 patients; both patients had normal results at time of initial PV diagnosis and complex cytogenetic abnormalities at time of leukemic transformation. In contrast, among 6 patients with available cytogenetic information at time of fibrotic transformation, the results were unchanged from those obtained at time of diagnosis in 5 patients. ii) Correlation between cytogenetics at diagnosis and JAK2V617F allele burden: Allele-specific, quantitative PCR analysis for JAK2V617F was performed in 71 patients using genomic DNA from archived bone marrow obtained at the time of the initial cytogenetic studies. JAK2V617F mutation was detected in 64 of the 71 (90%) patients; median mutant allele burden was 16% (range 3–80%) without significant difference among the different cytogenetic groups: normal vs. –Y vs. other cytogenetic abnormalities (p=0.72). iii) Clinical correlates and prognostic relevance of cytogenetic findings at diagnosis: Among several parameters studied for significant correlations with cytogenetic findings at diagnosis, an association was evident only for age (p=0.02); all –Y abnormalities (n=5) as well as 13 of the 15 (87%) other cytogenetic abnormalities occurred in patients ≥ 60 years of age. Stated another way, the incidence of abnormal cytogenetics (other than -Y) was 4% for patients younger than age 60 years and 15% otherwise. The presence of abnormal cytogenetics at diagnosis had no significant impact on either overall or leukemia-free survival. Conclusions: Abnormal cytogenetic findings at diagnosis are infrequent in PV, especially in patients below age 60 years. Furthermore, their clinical relevance is limited and there is not significant correlation with bone marrow JAK2V617F allele burden.
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Koenecke, Christian, Gudrun Göhring, Liesbeth de Wreede, Anja van Biezen, Christof Scheid, Liisa Volin, Johan Maertens, et al. "Prognostic Value Of Five-Group Cytogenetic Risk Classification In Patients With MDS After Allogeneic Hematopoietic Stem Cell Transplantation: A Retrospective Multicenter Study Of The Chronic Malignancies Working Party Of The EBMT." Blood 122, no. 21 (November 15, 2013): 2092. http://dx.doi.org/10.1182/blood.v122.21.2092.2092.
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Abstract Introduction The only curative treatment approach for patients with myelodysplastic syndromes (MDS) is allogeneic hematopoietic stem cell transplantation (HSCT), but disease relapse after transplantation is a major concern. Predictors for disease outcome after HSCT are limited. However, unfavorable cytogenetic abnormalities have been shown to serve as predictors for MDS-relapse after transplantation. Similar to the data available in MDS-patients not undergoing HSCT (Schanz et al. J Clin Oncol 2012), there is evidence that the novel 5-group cytogenetic classification has a better predictive value for outcome after HSCT than standard IPSS cytogenetics (Deeg et al. Blood 2012). The aim of this large multicentric, international study was to retrospectively determine the impact of the new 5-group cytogenetic MDS classification on outcome after HSCT. Patients and Methods Patients were selected from the EBMT database who had received HSCT for the treatment of MDS between 1982 and 2010 and for whom sufficient cytogenetic information was available. In total, 903 patients were included into the study. At time of HSCT, 97 (10.7%) patients had untreated MDS, 218 (24.1%) patients had advanced MDS or AML evolving from MDS in complete remission, and 227 (25.1%) patients were not in remission after treatment (in 12.3% information on stage of the disease was not available). Median time between diagnosis and transplant was 6.6 months (range 0.2-359.3). Matched related donor HSCT was performed in 574 patients (63.6%), and matched unrelated donor HSCT in 329 patients (36.4%). Bone marrow (35.4%) or peripheral blood (64.6%) served as stem cell graft. Myeloablative preparative regimens were used in 582 patients (64.5%), and a non-myeloablative regimen was given to 320 patients (35.4%). Impact of cytogenetic classification was analyzed in uni- and multivariate models regarding overall survival (OS) and relapse free survival (RFS) after HSCT. Predictive performance of the 2 classifications was compared by means of the cross-validated log partial likelihood. Results Estimated 5-year RFS and OS were 32% and 36% respectively. According to the 5-group cytogenetic classification 19 (2.1%) patients had very good risk cytogenetics, 204 (22.6%) normal risk cytogenetics, 438 (48.5%) intermediate risk cytogenetics, 178 (19.7%) poor risk cytogenetics, and 64 (7.1%) very poor risk cytogenetics. Good, intermediate, and poor risk cytogenetics according to IPSS were found in 192 (38.0%), 500 (40.2%), and 211 (23.7%) patients, respectively. In univariate analysis 5-group cytogenetic information was found to be strongly associated with OS and RFS (OS: log-rank test P<.01, RFS: P<.01) (Figure 1). Further clinicopathologic factors showed a significant impact on impaired OS and RFS: Disease status at HSCT (RA/RARS no pretreatment; RAEB(t)/sAML in CR; RAEB(t)/sAML not in CR, RAEB(t)/sAML untreated) (OS: P<.01, RFS: P<.01) and IPSS cytogenetics (good; intermediate; poor) (OS: P<.01, RFS: P<.01). Patient age showed an impact for RFS (P=.05), but not for OS (P=.09). In multivariate analysis, statistically significant predictors for RFS and OS at HSCT were 5-group cytogenetics, IPSS-cytogenetics, disease status and patient's age. Using 5-group cytogenetics classification, patients with poor risk [(RFS: P=.001, HR=1.40 (95% CI: 1.15-1.71); OS: P=.003, HR=1.38 (95% CI: 1.12-1.70)] or very poor risk cytogenetics [(RFS: P<.001, HR=2.14 (95% CI: 1.6-2.9); OS: P<.001, HR=2.14 (95% CI: 1.59-2.87)] had worse RFS and OS than patients in the other 3 risk groups. Patients with very poor risk cytogenetics had worse RFS and OS compared to patients with poor risk cytogenetics [(RFS: P<.01, HR=1.53 (95-% CI: 1.11-2.11), OS: P<.01, HR=1.55 (95-% CI: 1.11-2.15)]. When comparing the predictive performance of a series of 3 models both for OS and for RFS – (1) with only classical risk factors, (2) these extended with IPSS cytogenetics, (3) extended with 5-group classification instead-, the model with 5-group cytogenetics performed best. Conclusion In this international, multicentric analysis we confirm that MDS patients with poor and very poor risk cytogenetics had significantly worse RFS and OS after HSCT than patients in the other risk groups of the 5-group cytogenetic classifier. New therapeutic strategies to prevent relapse after HSCT in patients with poor or very poor cytogenetics are urgently needed. Disclosures: No relevant conflicts of interest to declare.
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Tamkus, Deimante, Ahmad Jajeh, Ebenezer Berko, David Osafo, Decebal Griza, Paula Kovarik, and Rose Catchatourian. "Adult Acute Lymphoblastic Leukemia and Cytogenetic Abnormalities in Different Racial and Ethnic Subgroups." Blood 106, no. 11 (November 16, 2005): 4547. http://dx.doi.org/10.1182/blood.v106.11.4547.4547.
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Abstract Inferior survival of African American and Hispanic patients with acute lymphoblastic leukemia (ALL) has been reported. The reason for this is unclear. A retrospective analysis was conducted to see if abnormal cytogenetics account for the differences. We have analyzed cytogenetic studies of 39 adults (16 year and older) with newly diagnosed ALL who were consecutively treated at John Stroger Hospital of Cook County between 1997 and 2005. The study population included 13 (33%) African Americans, 18 (46%) Hispanics, 6 (16%) Caucasians, and 2 (5 %) other ethnic background adults. Male to female ratio was 2:1. Mean age at diagnosis was 26 (range between 16 and 71 years). A clonal cytogenetic abnormality was detected in 27 patients, and 12 patients had normal karyotype. Patients with t (9;22)(q34;q11), BCR-ABL + by FISH, t (4;11)(q21;q23), +8, −7 cytogenetic abnormalities were assigned to an unfavorable cytogenetic group. This group was composed of 14 patients. None of our study patients had favorable cytogenetics: del (12p), t(12p), t(14q11-q23), inv(14)(q11;q32) or t(10;14)(q24;q11). Remaining 25 patients with normal karyotype (n=12) or miscellaneous cytogenetic abnormalities (n=13) were classified as normal risk group. 54 % of African Americans had unfavorable cytogenetics, compared with 33 % Caucasians and 17 % Hispanics. Translocation t (9;22) alone or in association with other cytogenetic abnormalities was most commonly seen. 9 patients had single, and 18 had multiple chromosomal changes. Hispanic group had more complex cytogenetic changes when compared with the African American or Caucasian groups. Unfavorable cytogenetic abnormalities may account for inferior survival in African Americans, but other factors such as compliance or pharmacogenetics should be evaluated, especially in the Hispanic patient population.
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H K, Vidya, and Suresh B S. "CYTOGENETIC STUDY IN COUPLES WITH BAD OBSTETRIC HISTORY." International Journal of Anatomy and Research 5, no. 4.3 (December 1, 2017): 4716–22. http://dx.doi.org/10.16965/ijar.2017.456.
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Goldberg, Stuart L., and David P. Steensma. "Myelodysplastic Syndrome Patients Obtaining a Cytogenetic Response to Outpatient Decitabine Experience Improved Hematological Responses and Longer Survival: Additional Analyses From the ADOPT Trial." Blood 114, no. 22 (November 20, 2009): 3817. http://dx.doi.org/10.1182/blood.v114.22.3817.3817.
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Abstract Abstract 3817 Poster Board III-753 Background The multi-center ADOPT trial (J Clin Oncol 2009; 27:3942) demonstrated that decitabine (Dacogen), a cytidine analog with hypomethylating and direct cytotoxic properties, when administered to MDS patients with IPSS '0.5 on an outpatient schedule of 20 mg/m2 IV infusion 5 days per month resulted in an overall improvement rate of 51%, including 32% complete responses (CR+mCR), using the International Working Group 2006 criteria. The impact of obtaining a cytogenetic response to decitabine therapy on subsequent hematological parameters or survival is the focus of this analysis. Study Design/Methods 99 patients with de novo or secondary MDS were enrolled on the ADOPT trial. 49 patients had abnormal cytogenetics at baseline. 33 patients underwent at least one successful post-treatment karyotypic analysis and were therefore evaluable for cytogenetic response. Data analysis utilized student t-tests and comparisons of proportions. Results 17/33 evaluable patients (52%) achieved a cytogenetic response, with 11 complete responses and 6 partial responses (i.e., >50% reduction in abnormal metaphases). Responses were noted among patients in all IPSS cytogenetic risk categories: low risk cytogenetics 3/3 (100%), intermediate risk cytogenetic 5/8 (62%), and high risk cytogenetic (43%). Cytogenetic responses by abnormality included: -Y (3/3), del 5q (1/7) 1, del 20q (1/2), complex (6/14), chromosome 7 abnormalities (6/14), +8 (5/6), and others (3/7). Baseline characteristics were similar among cytogenetic responders and non-responders: mean age 72.2 vs 68.6 years (p=0.30), males 94 vs 63% (p=0.07), secondary MDS 24 vs 13% (p=0.72), high risk IPSS 35 vs 63% (p=0.21), int-2+high risk IPSS 59 vs 85% (p=0.20), blasts <10% 59 vs 31% (p=0.21), red cell transfusion dependent 41 vs 69% (p=0.21) and platelet transfusion dependent 6 vs 19% (p=0.54). The median time to cytogenetic response was 2.3 months, coinciding with the first post-treatment marrow sampling timing. Of the 17 cytogenetic responders, 13 (76%) had a clinical hematological responses (10 CR and 3 mCR) which was significantly higher (p=0.003) than the 3 of 16 evaluable patients (18%) not experiencing a cytogenetic response. Among cytogenetic responders the duration of the hematological response (451 days, 95% CI 143, NE) also was greater than the duration of hematological response among cytogenetic non-responders (219 days, 95% CI 184, NE). 71% (12/17) of cytogenetic responders were red cell transfusion independent on study by IWG criteria compared to 44% (7/16) non-cytogenetic responders (p=0.22). Significantly more cytogenetic responders achieved prolonged red cell transfusion independence lasting at least 24 weeks (10/17; 59%) compared to cytogenetic non-responders (3/16; 19%) (p=0.04). 88% (15/17) of cytogenetic responders were platelet transfusion independent during the study compared to 75% (12/16) non-cytogenetic responders (p=0.61). Higher rates of prolonged platelet transfusion independence lasting at least 24 weeks were achieved among 82% (14/17) cytogenetic responders versus only 38% (6/16) cytogenetic non-responders (p=0.03). Achieving a cytogenetic response correlated with improved survival. Cytogenetic responders had a median survival of 627 days (95% CI 420,760) versus 318 days (95% CI 265, 447) for cytogenetic non-responders. Conclusions Outpatient administration of decitabine (20mg/m2 IV 5 days per month) resulted in cytogenetic responses in 52% of patients with MDS with baseline cytogenetic abnormalities, with a median time to response of 2.3 months. Patients achieving a cytogenetic response had higher rates of hematological responses, longer durations of transfusion independence, and a doubling of projected survival. This analysis suggests that a deeper early response documented by cytogenetics with decitabine correlates with improved long term outcomes, and supports early cytogenetic testing to predict hematological response. Disclosures: Goldberg: Eisai, Inc.: Research Funding.
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Mešanović, Semir, Milan Perić, and Aneta Vareškić. "Prenatal Screening of Cytogenetic Anomalies -A Ten Year Retrospective Study on 1510 Cases." European Journal of Medical and Health Sciences 5, no. 3 (June 24, 2023): 70–73. http://dx.doi.org/10.24018/ejmed.2023.5.3.1804.
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Introduction: Prenatal diagnostic is a diagnostic method which is used to prove the presence of chromosome changes, a large number of metabolic disorders and other morphological fetus abnormalities. Prenatal genetic testing mostly refers to the molecular genetic and cytogenetic methods used during pregnancy to diagnose genetic fetal conditions. Aim: To investigate the existence and incidence of cytogenetics abnormalities in fetuses. Material and Methods: The retrospective research is based on cytogenetic analysis of the 1510 amniotic fluid samples collected from pregnant women sent to the cytogenetic laboratory from January, 2012 to December, 2022. Results: The karyotype without visible structural and numerical changes was detected in 96.8% (1462/1510) cases. The fetal karyotype was abnormal in 3.2 % (48/1510) of the cases. Trisomy 21 was the most frequent chromosome aberration detected in 1.12% (17/1510) cases followed by pericentric inversion 9 (10/1510; 0.66%) and trisomy 18 (4/1510; 0.26%). Mosaics were detected in five cases (5/1510; 0.33%). Comparing the prevalence of chromosome abnormalities according to maternal age, we come to know the prevalence of chromosome aberrations in the group of females above age 35 (26/790; 17.2/1000) is higher than in the group of females under age 25 (7/95; 4.63/1000), but not significantly different (P= 0.09). Conclusion: Conventional cytogenetics maintains its role as a powerful diagnostic tool in detecting chromosomal changes during prenatal screening.
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Subramanian, PG. "Cytogenetic study in CML." Indian Journal of Medical Research 135, no. 1 (2012): 12. http://dx.doi.org/10.4103/0971-5916.93418.
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Andriaholinirina, Nicole, Clément Rabarivola, Marcel Hauwy, and Yves Rumpler. "Cytogenetic Study of Lepilemurmicrodon." Folia Primatologica 76, no. 4 (2005): 238–41. http://dx.doi.org/10.1159/000086027.
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Cashen, Amanda F. "Decitabine Can Induce Complete Cytogenetic Responses When Used as Initial Therapy in Older AML Patients." Blood 114, no. 22 (November 20, 2009): 4123. http://dx.doi.org/10.1182/blood.v114.22.4123.4123.
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Abstract 4123 Background The incidence of acute myeloid leukemia (AML) increases with advancing age. At present, there are limited treatment options available for older patients because of lack of efficacy and increased toxicity. In a previously reported Phase II AML trial (n = 55), older patients not previously treated for AML experienced an overall response rate of 25% with decitabine (Cashen et al. Blood 2008). Response rate was similar in patients with poor or intermediate cytogenetic risk at baseline. In addition, 5 (15%) of the 34 patients who had cytogenetic abnormalities at baseline achieved a complete cytogenetic response in this trial. As older AML patients are more likely to present with unfavorable cytogenetic profiles, it was of interest to review the patient characteristics and describe the responses of the 5 patients who had a complete cytogenetic response. Methods The patients for this analysis were from a multicenter, Phase II study. In this study, patients over the age of 60 with AML (>20% bone marrow blasts) and no prior therapy for AML were treated with decitabine, 20 mg/m2 IV for 5 consecutive days of a 28-day cycle until disease progression or unacceptable adverse event. Cytogenetic profile was assessed at screening and after every cycle, beginning with cycle 2. Results The 5 patients (2 males, 3 females; 5 white; 2 M1, 1 each for M2, M6, and M7) with a complete cytogenetic response had baseline characteristics that are associated with high risk. Three were >70 yrs of age, and all 5 had AML secondary to prior therapy (n=2) or MDS (n=3). Four patients had poor-risk cytogenetics: 2 pts with -7, -5q, and ≥ 3 abnormalities and 2 pts with deletions of chromosome 5 and ≥ 3 abnormalities. One patient had intermediate-risk cytogenetics. The median baseline bone marrow myeloblast count was 33% (range 21 to 60). These patients were treated with a median 10 cycles (range 6 to 19) of decitabine. The median time to a complete cytogenetic response was 5 cycles (range 2.3 to 6). The median time to relapse from a complete cytogenetic response was 8.1 cycles (range 3.4 to 19.8). The overall median survival was 21.6 months (95% CI: 9.5, 24.7), which compares favorably to the median overall survival of the entire study cohort (21.6 months vs. 7.7 months, Cashen et al. Blood 2008). Conclusions Treatment with decitabine can induce complete and durable cytogenetic responses, even in older patients with high risk disease characteristics and poor risk cytogenetics. Patients who achieve a cytogenetic response may have a survival benefit. A presently ongoing Phase III survival trial with decitabine will help further characterize the effect of decitabine on cytogenetic responses in older AML patients. Disclosures: Cashen: Eisai, Inc.: Consultancy.
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Waheed, Samra, Jawad Hassan, Maliha Naz, Sidra Maqsood, Madiha Abid, Saira Shan, Muhammad Nadeem, and Tahir S. Shamsi. "Complex Karyotype in Hematological Diseases: A 6-Year Single Centre Study from Pakistan." Journal of Oncology 2018 (June 3, 2018): 1–5. http://dx.doi.org/10.1155/2018/2019239.
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Background. Most of the hematological disorders are heterogenous with regard to morphology, immunophenotype, and genetic rearrangements. Multiple recurrent chromosomal aberrations have been identified by conventional cytogenetic analysis, which is now widely recognized as one of the most important diagnostic and prognostic determinants in these patients. Though rarer, complex karyotype has been associated with worst prognosis.Materials and Methods. A total of 1185 bone marrow or peripheral blood cytogenetics samples were taken with different hematological diseases. They included both benign and malignant disease entities. In each case, cells were cultured and conventional cytogenetic analysis was performed.Results. Among 1185 subjects, 41 (3.4%) patients possessed complex cytogenetic abnormalities. Out of these 41, 33 (80%) were males. The mean age was 37 years (median age 39 years). Myelodysplastic syndromes had the most numbers of complex karyotypes (8%), followed by acute myeloid leukemia (7%) and acute lymphoblastic leukemia (4%). Also we found few patients with acute promyelocytic leukemia, aplastic anemia , chronic myeloid leukemia, and diffuse large B cell Lymphoma possessing complex karyotype. Frequencies of different cytogenetic abnormalities were assessed with respect to disease as well as independently. Trisomy 21 was the most common chromosomal abnormality found in 28% of patients.Conclusion. Complex karyotype was most frequently associated with myelodysplastic syndromes and acute myeloid leukemia. Trisomy 21 and deletion 5q were the commonest cytogenetic abnormalities found. We also assessed complex karyotype in benign diseases and detected one patient of aplastic anemia with complex karyotype. This is the first study highlighting the presence of complex karyotypes in hematological disorders in our region.
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Vyas, Jaya, Dhanajaya Pathak, Gauri Pradhan, Kundan Desai, Chaitali Kadam, Raj Jatale, Megha Kambli, Aparna Rajdhyaksha, and Kirti Chadha. "CYTOGENETIC STUDIES IN BAD OBSTETRIC HISTORY (BOH) AND INFERTILITY-A RETROSPECTIVE STUDY FROMA STAND-ALONE LABORATORY." International Journal of Advanced Research 10, no. 03 (March 31, 2022): 662–68. http://dx.doi.org/10.21474/ijar01/14434.
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Introduction: Cytogenetic abnormalities are one of the important causes of recurrent pregnancy loss or bad obstetric history and Infertility. Almost 50% of first trimester pregnancy loss and upto 20% of second trimester loss can be due to cytogenetic cause. At the same time, cytogenetic abnormalities are also detected in2-3% of cases with infertility especially in males. Methods: In this paper, wepresent our detailed analysisof13,618 of Bad Obstetric History (BOH) and infertility cases,referred for cytogenetics studies at Metropolis Healthcare Ltd, with an aim to look at chromosomal abnormalities observed in our huge dataset. This is the largest ever reported study of cytogenetic studies in BOH and infertility cases. Results: We detected chromosome abnormalities in 470 (3.45%) of 13,618 cases. Out of the 470 cases, reciprocal translocations were the highest abnormality noted in 136 (28.94%) cases, followed by chromosome 9 inversion seen in 125 (26.6%) cases and three (0.64%) cases of insertion were also observed. Inversions were seen in 76 (16.17%) cases. Robertsonian translocations were seen in 19(4.04%) cases and complex translocations were seen in 3 (0.64%) cases. Numerical abnormalities were detected in 84 (17.87%) cases where as Mosaicism was seen in 17(3.62%) cases. Conclusion:This study reinstates the importance of cytogenetic analysis in BOH and infertility cases in order to provide effective genetic counseling to guide the patients to prevent the birth of cytogenetically affected babies by informing them about the prenatal diagnostic testing options and preimplantation genetic testing methods.
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Strand, Jacob J., Terra L. Lasho, Susan M. Schwager, Michelle M. Elliott, Chin-Yang Li, and Ayalew Tefferi. "Cytogenetic Profile, JAK2V617F Mutational Status, and Response to Drug Therapy in Myelofibrosis with Myeloid Metaplasia." Blood 106, no. 11 (November 16, 2005): 2591. http://dx.doi.org/10.1182/blood.v106.11.2591.2591.
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Abstract Background: One of the utilities of molecular markers in hematological malignancies is their potential to predict response to drug therapy. Accordingly, we inquired about the effect of both cytogenetic profile and JAK2V617F mutational status on drug therapy response in myelofibrosis with myeloid metaplasia (MMM). Methods: Mutation analysis for JAK2V617 was performed in DNA derived from peripheral blood mononuclear cells, granulocytes, or both. Genomic DNA was amplified by PCR and fluorescent dye chemistry sequencing was performed using the same primers used for amplification (Levin et al. Cancer Cell2005;7:387). Abnormal cytogenetic findings were considered to be either favorable (sole 13q- or 20q- abnormalities) or unfavorable (other abnormalities) (Tefferi et al. BJH2001;113:763). Results: i. Patients and treatment: A total of 69 patients with MMM (median age 62 years, range 38–75; 47 males) received the following drugs as first-line therapy for either anemia or symptomatic splenomegaly; erythropoietin (Epo) alone or in combination with hydroxyurea (n=25), hydroxyurea alone (HU; n=17), interferon alpha (IFN; n=11), combination of thalidomide and prednisone (ThalPred; n=7), androgen preparations (Andro; n=5), and etanercept (n=4). ii. Results of cytogenetic studies and JAK2 mutation screening: Cytogenetic findings were abnormal in 35 patients (51%); favorable in 9 and unfavorable in 26. JAK2V617 mutation analysis revealed wild-type allele in 31 patients (45%) and either heterozygous (n=31) or homozygous (n=7) mutation in the remaining 38 patients (55%). iii. Correlation of response to cytogenetic/molecular markers: Overall, 17 patients (25%) achieved either a major (n=8) or minor (n=9) response in anemia from treatment with one of the aforementioned drugs. Regardless of either JAK2V617 mutational status or cytogenetic profile, treatment-induced responses in anemia were poor for IFN (0%) and HU (12%). In contrast, the best anemia responses were documented for ThalPred (57%), Andro (40%), and Epo-based therapy (32%). Among the 25 patients that received Epo-based therapy, all 3 patients with favorable cytogenetic abnormalities achieved major responses in anemia whereas such responses were seen in none of the 9 patients with unfavorable cytogenetic abnormalities and only 1 of 13 patients with normal cytogenetics (p=0.004). Furthermore, 3 of the 4 major responders were heterozygous for JAK2V617 and one carried the wild-type allele. In contrast, none of the 3 JAK2V617 homozygotes showed any type of response but all 3 also displayed unfavorable cytogenetics. None of the 7 ThalPred-treated patients carried favorable cytogenetics and yet 3 achieved major responses including one with unfavorable cytogenetics. JAK2V617 mutational status was heterozygous in 1 and wild-type in the other two. There were no major responses among the 5 Andro-treated patients despite the presence of favorable cytogenetic abnormalities in 2 patients. In order to investigate the relationship between cytogenetic profile and JAK2V617 mutational status further, we referred to an expanded database of 116 patients and found the incidence of unfavorable cytogenetics to be higher in JAK2V617 homozygotes compared to non-homozygotes (57% vs. 31%; p=0.16) Conclusion: The current study suggests clustering of favorable cytogenetic abnormalities in MMM with anemia response to Epo therapy and unfavorable cytogenetic abnormalities with homozygosity for JAK2V617 mutation.
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Athale, Uma, Lehana Thabane, Raul C. Ribeiro, and Ronald Barr. "Diagnostic Cytogenetic Analysis in Pediatric Acute Myeloid Leukemia (AML): Evaluation of Methodological Issues with a Special Focus On Missing Data." Blood 114, no. 22 (November 20, 2009): 4688. http://dx.doi.org/10.1182/blood.v114.22.4688.4688.
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Abstract Abstract 4688 Background Acquired clonal chromosomal alterations are common and considered to have prognostic implications in acute myeloid leukemia (AML). Although bone marrow cytogenetic analysis is required for the classification of AML subtypes and is often used for guiding therapy, the prognostic relevance of the cytogenetic abnormalities in children with AML remains controversial, limiting their value in risk-stratified therapy. Hence we reviewed the reports published by four major pediatric AML study groups to assess the strength of their evidence for the use of cytogenetics as a predictor variable in risk stratification of children with AML, focusing closely on the impact of missing data. Methods Reports of consecutive phase III clinical trials published by cooperative study groups that used cytogenetic features for risk stratification of children with de novo AML were reviewed for their methods of assessing the predictive strength of diagnostic cytogenetic analysis (predictor variable) for clinical outcomes, as well as the extent and impact of missing data. We focused on publications by the North American [Pediatric Oncology Group (POG) and Children's Cancer Group (CCG)] and the European [United Kingdom Medical Research Council (UK MRC) and Berlin-Frankfurt-Munster (BFM) group] consortia as they represent major pediatric AML study groups in their respective continents and each of these groups has conducted several multicenter pediatric AML studies with large sample sizes. Results During the period 1979-2003, four large pediatric AML study groups conducted 12 Phase III studies evaluating diagnostic cytogenetics. In all, 20 publications reporting the results of these trials were studied to evaluate the impact of diagnostic cytogenetics on clinical outcome. Across all study groups, large amount of cytogenetic data were missing (mean ± SD 31.5% ±17.5%; range 5.3% to 58.1%), but neither the causes of “missingness” nor the methods used to handle the missing data were reported or discussed. In addition, we found a lack of uniformity in the assessment of the predictor variable and outcome measures, lack of a priori estimation of sample size to address the impact of diagnostic cytogenetics and the absence of a validation process. Conclusions Missing data were a common but often unidentified problem in a series of large clinical trials testing various treatment strategies in children with AML. This problem, together with other methodological issues in the assessment of the predictor variable and clinical outcome measures, may have biased the estimates of the prognostic strength of diagnostic cytogenetic analysis. Disclosures: No relevant conflicts of interest to declare.
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Samarth, Ravindra M., Rajnarayan R. Tiwari, Gopesh Modi, Kishore K. Soni, Mohan L. Banjare, Shariq Ul Hasan, and Sanjay Jain. "Evaluation of Cytogenetic Alterations in Patients of Chronic Kidney Disease." Indian Journal of Nephrology 33, no. 4 (2023): 259–63. http://dx.doi.org/10.4103/ijn.ijn_130_22.
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Introduction: In recent years, there has been a rise in chronic kidney disease (CKD), and it has been estimated that by 2040, CKD will be the fifth most common cause of death globally. In addition to diabetes, hypertension, obesity, hyperlipidemia, and nonalcoholic fatty liver disease commonly associated with CKD, exposure to various toxins as a result of pollution or industrial disasters is also discussed as a cause for multi-organ pathology including kidneys. Although few cytogenetic studies were undertaken to assess the genetic damage in survivors of the disaster, no studies are available on the cytogenetic damage of toxic-gas exposed population having CKD. Therefore, the present multi-group cross-sectional study was undertaken to assess the independent role of CKD as well as toxic gas exposure on cytogenetics. Methods: The cytogenetic alterations were evaluated through chromosomal aberration analysis and micronuclei assay. The study included 608 study participants divided into four groups on the basis of history of exposure to the leaked gas and presence or absence of CKD. Results: The results of the study showed no statistically significant difference in cytogenetic damage between gas-exposed and non-exposed patients of CKD, whereas significantly higher cytogenetic damage was observed among gas-exposed participants having CKD compared to gas-exposed participants free from CKD, suggesting that cytogenetic changes could be due to CKD itself. Conclusions: Thus, to conclude, the cytogenetic alterations observed in the study can be partly attributed to the disease itself.
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Moosmann, Peter R., Rainer Krahl, Lutz Uharek, Cornelia Becker, Astrid Franke, Rita Pasold, Norma Peter, Antje Schulze, Ulrich Wedding, and Dietger W. Niederwieser. "Granulocyte-Colony-Stimulating Factor (G-CSF) Accelerates Normal Myeloid Recovery More Efficiently in Patients with Favorable Than with Intermediate or Unfavorable Cytogenetic Risk Acute Myeloid Leukemias (AML): A Retrospective Analysis of the East German Hematology Oncology Study Group (OSHO)." Blood 104, no. 11 (November 16, 2004): 870. http://dx.doi.org/10.1182/blood.v104.11.870.870.
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Abstract Objectives: Hematopoietic growth factors are essential in accelerating myeloid reconstitution and reducing treatment morbidity of hematological and non-hematological malignant diseases. In order to understand in more detail the effect of G-CSF on myeloid regeneration, patients (pts) with AML (excluding APL) enrolled in the OSHO AML96 and AML97 trials were analyzed with respect to cytogenetic risk factor, G-CSF treatment and myeloid recovery. Methods: A total of 603 eligible pts from 19 centers were included in this retrospective study. The diagnosis of AML was centrally reviewed and cytogenetic analyses performed in accredited laboratories. Pts were grouped in favorable (ie CBF leukemias: t(8;21); inv16) intermediary (normal or others) and unfavorable (−5/5q-; −7/7q-; abn11q23; inv3, or complex) cytogenetic risks. Treatment consisted of 8gm/m2 Ara-C for induction (1gm/m2 q12h or 2gm/m2/d on d1,3,5,7) in combination with an anthracycline (idarubicine 12mg/m2/d in patients <60a or mitoxantrone 10mg/m²/d on d1-3 in patients >60a). G-CSF was started on day 10 after chemotherapy and continued until myeloid reconstitution in 394 pts from 10 centers. Results: After induction chemotherapy, G-CSF accelerated leukocyte recovery (>1x109/L) by 3 days (median 21d vs 24d; n=560). The effect of G-CSF was, however, more evident in the favorable cytogenetic risks (19d vs 25d; p<0.0001), followed by the intermediate (21d vs 24d; p<0.0001) and not significant in the unfavorable (22d vs 25d; p=0.29). In pts without G-CSF treatment, myeloid reconstitution was identical in the 3 cytogenetic groups (25d vs 24d vs 25d). Subsequently, only pts with complete remission after the first induction treatment were selected (n=302) and the duration of leukopenia analyzed with respect to G-CSF and cytogenetic findings. Again, G-CSF shortened the duration of leukopenia in all 3 cytogenetic groups, and the effect was clearly influenced by cytogenetics. The median duration to myeloid recovery in pts with CBF AML was 25d without G-CSF and 19d with G-CSF treatment (p=0.0001). Pts with intermediate cytogenetics recovered after a median of 24d without and after 21d with G-CSF (p= 0.0003). The outcome in pts with unfavorable karyotype was similar: 25d without and 21d with G-CSF treatment, respectively (p=0.004). However, whereas no difference in myeloid reconstitution was observed between the 3 cytogenetic groups without G-CSF administration, clear differences were seen in G-CSF treated pts between the CBF AML and the others (6d vs 3-4d; p<0.0007). In a multivariate analysis, the cytogenetic risk group (p=0.002), remission state after first induction (p=0.004), and G-CSF administration (p<0.0001) independently proved to influence myeloid regeneration. Conclusion: We conclude that the accelerating effect of G-CSF on myeloid recovery correlates with cytogenetic findings and is greater in CBF AML than in intermediary or unfavorable cytogenetics. The mechanisms underlying this effect are currently unknown, but might involve increased susceptibility of normal hematopoiesis to G-CSF in CBF AML, or might rely on the differentiating effect of G-CSF on CBF AML.
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Gordon, Tony, Aidan McManus, John Anderson, Toon Min, John Swansbury, and Kathy Pritchard-Jones. "Cytogenetic abnormalities in 42 rhabdomyosarcoma: A United Kingdom cancer cytogenetics group study." Medical and Pediatric Oncology 36, no. 2 (2001): 259–67. http://dx.doi.org/10.1002/1096-911x(20010201)36:2<259::aid-mpo1063>3.0.co;2-k.
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Barz Leahy, Allison, Kaitlin J. Stanley, Regina M. Myers, Amanda M. DiNofia, Lisa Wray, Susan R. Rheingold, Colleen Callahan, et al. "Cytogenetic Characteristics and Outcomes of Patients Receiving CTL019 CAR T Cell Therapy." Blood 134, Supplement_1 (November 13, 2019): 1464. http://dx.doi.org/10.1182/blood-2019-130060.
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Background: CTL019 is a therapy derived from autologous T cells expressing a CD19-specific chimeric antigen receptor (CAR) that was approved by the FDA in August 2017 (tisagenlecleucel). Complete and durable remissions have been seen in the setting of pediatric and young adult patients with relapsed and refractory B cell acute lymphoblastic leukemia (ALL) (Maude NEJM 2018). Initial case reports suggested that there may be differential outcomes mediated by cytogenetic characteristics of the leukemia at CAR T cell infusion. Here, we report results from a single institution experience of 112 patients. Methods: Patients with relapsed/refractory ALL were identified as having received CTL019 either in the context of a clinical trial (NCT02906371) or commercial product (tisagenlecleucel) at Children's Hospital of Philadelphia from October 2016 to April 2019. Patients who received prior CAR T therapy were excluded. Demographic, cytogenetic, and outcome data were manually abstracted from the medical record or clinical trial datasets. High risk lesions were defined as MLL(KMT2A) rearrangements, Philadelphia-chromosome (Ph+), Ph-like, hypodiploidy, and TCF3/HLF fusion. Favorable cytogenetics were defined as the presence of hyperdiploidy or ETV6/RUNX1fusion and intermediate were defined as iAMP21, IKZF1deletion, or TCF3/PBX1. Patients were classified according to their highest risk cytogenetic characteristic and stratified by cytogenetic risk category present at CAR T cell infusion. Relapse-free survival (RFS) and overall survival (OS) was described for cohorts with more than 10 patients. Results: One hundred and twelve patients were included in the analysis, with a median age of 11 years (range 1-29) at infusion, of which 32% had had a previous allogeneic hematopoietic stem cell transplant (alloHSCT). Disease burden at the time of CTL019 infusion was heterogenous, with 61% having detectable disease in the bone marrow and 21% having more than 25% blasts by flow cytometry. Thirty-six patients (32%) had leukemias with high-risk genetic lesions at infusion, including 12 with MLL rearrangements and 18 with Ph+ or Ph-like lesions (Table 2). Thirty-one patients (28%) had hyperdiploidy or ETV6/RUNX1; 3 additional were in conjunction with high-risk cytogenetics (t(17;19) and 2 with Ph+), and 3 in the setting of intermediate-risk cytogenetics (iAmp21, TCF3/PBX1, IKZF1deletion). Figure 1 demonstrates RFS for those patients in remission at day 28 following infusion, stratified by cytogenetic risk category. Complete remission (CR) rate in the high-risk cytogenetics group was 94%. RFS at 12 months was 69% (0.50-0.82), 69% (0.40-0.86), and 67% (0.48-0.80) for non-informative, favorable, and high-risk cytogenetic groups, respectively. Figure 2 shows OS of patients infused with CTL019, again stratified by cytogenetic categories of interest, with a maximum follow-up time of 30 months. OS at 12 months was 84% (0.68-0.93) and 76% (0.56-0.88) for the non-informative and high-risk cytogenetic groups, respectively. There were no deaths in that time period for the favorable risk category. There was no statistically significant difference in RFS or OS for patients with high-risk cytogenetics. The intermediate-risk cytogenetics group (n<10) was excluded from these analyses. Conclusion: Durable remissions can be achieved with CTL019 across several high-risk cytogenetic subtypes of B-ALL. Stratifying outcomes by cytogenetic risk category in this unadjusted analysis does not show a statistically significant difference in either RFS nor OS. Further investigation is needed to parse out the contribution of individual cytogenetic lesions as well as the effects of other relapse and survival risk factors at play. Figure Disclosures Rheingold: Novartis: Consultancy; Pfizer: Research Funding. Callahan:Novartis: Consultancy. Hunger:Bristol Myers Squibb: Consultancy; Amgen: Consultancy, Equity Ownership; Jazz: Honoraria; Novartis: Consultancy. Grupp:Novartis: Consultancy, Research Funding; Roche: Consultancy; GSK: Consultancy; Cure Genetics: Consultancy; Humanigen: Consultancy; CBMG: Consultancy; Novartis: Research Funding; Kite: Research Funding; Servier: Research Funding; Jazz: Other: study steering committees or scientific advisory boards; Adaptimmune: Other: study steering committees or scientific advisory boards. Maude:Kite: Consultancy; Novartis: Consultancy.
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Rangel-Pozzo, Aline, Daiane Corrêa de Souza, Ana Teresa Schmid-Braz, Ana Paula de Azambuja, Thais Ferraz-Aguiar, Tamara Borgonovo, and Sabine Mai. "3D Telomere Structure Analysis to DetectGenomic Instability and Cytogenetic Evolutionin Myelodysplastic Syndromes." Cells 8, no. 4 (April 2, 2019): 304. http://dx.doi.org/10.3390/cells8040304.
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The disease course of myelodysplastic syndromes (MDS) features chromosome instability and clonal evolution, leading to the sequential acquisition of novel cytogenetic aberrations and the accumulation of these abnormalities in the bone marrow. Although clonal cytogenetic abnormalities can be detected by conventional cytogenetics in 50% of patients with MDS, such distinguishing patterns are lacking in the other 50%. Despite the increase in the prognostic value of some biomarkers, none of them is specific and able to discriminate between stable and unstable patients that subsequently progress to acute myeloid leukemia. This pilot study aimed to investigate the potential use of the 3D telomere profiling to detect genomic instability in MDS patients with or without clonal cytogenetic evolution. The comparison between different time points in patients with cytogenetic changes showed that in the CD34+ MDS cells, there was a significant decrease in the total number of telomeric signals, the average intensity of signals and the total intensity of telomeres. By contrast, the number of aggregates increased during cytogenetic evolution (p < 0.001). This pattern was observed only for MDS patients with cytogenetic evolution but was absent in patients without cytogenetic changes. In conclusion, we demonstrated that the 3D nuclear telomere organization was significantly altered during the MDS disease course, and may have contributed to cytogenetic clonal evolution.
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Cojbasic, Irena, and Lana Macukanovic-Golubovic. "Prognostic factors associated with complete cytogenetic response in patients with chronic myelogenous leukemia on imatinib mesylate therapy." Srpski arhiv za celokupno lekarstvo 138, no. 5-6 (2010): 305–8. http://dx.doi.org/10.2298/sarh1006305c.
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Introduction Imatinib mesylate, a selective Bcr-Abl tyrosine kinase inhibitor, has proved to be most effective therapy of Philadelphia chromosome-positive chronic myelogenous leukemia. Imatinib induces complete haematological and cytogenetic response in high percentage of patients. Objective The aim of this study was to identify potential prognostic factors before beginning treatment with imatinib associated with complete cytogenetic response. Methods We analyzed 20 patients with newly diagnosed Philadelphia positive chronic myelogenous leukemia treated at our institution from June 2006 until May 2009. These patients were treated with imatinib mesylate in oral dose of 400 to 800 mg daily. Complete blood counts were performed every month, while serum chemistry evaluations and bone marrow evaluations including morphology and cytogenetics were performed every 6 months. Results Of the 20 patients analyzed in this study, 19 (95%) achieved complete haematologic response within three months. In all patients cytogenetic analyses were done and all have achieved absolute cytogenetic response. The best cytogenetic response rate at any time during study treatment among 20 patients was: complete cytogenetic response in 15, partial cytogenetic response in three and minor cytogenetic response in two patients. Among 11 observed base-line patients' characteristics five were independent predictors of a high rate of complete cytogenetic response; the absence of blasts and basophils in peripheral blood, the presence of less than 5 percent of bone marrow blasts, white blood cell count less than 10x109/L and the absence of splenomegaly (p<0.01). Conclusion Our results showed that some pre-treatment characteristics of patients might be the cause of differences in treatment outcome. On the basis of this analysis, we identified several pre-treatment patients' characteristics to be independent prognostic factors for achievement of complete cytogenetic response. .
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Chennamaneni, Rachana, Sadashivudu Gundeti, Meher Lakshmi Konatam, Stalin Bala, Ashok Kumar, and Lakshmi Srinivas. "Impact of cytogenetics on outcomes in pediatric acute lymphoblastic leukemia." South Asian Journal of Cancer 07, no. 04 (October 2018): 263–66. http://dx.doi.org/10.4103/sajc.sajc_13_18.
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Abstract Context: In acute lymphoblastic leukemia (ALL), the most important prognostic factors are age, leukocyte count at presentation, immunophenotype, and cytogenetic abnormalities. The cytogenetic abnormalities are associated with distinct immunologic phenotypes of ALL and characteristic outcomes. Aims: The present study was primarily aimed at analyzing the impact of cytogenetics on postinduction responses and event-free survival (EFS) in pediatric patients with ALL. The secondary objective was to study the overall survival (OS). Subjects and Methods: A total of 240 patients with age <18 years and diagnosed with ALL between January 2011 and June 2016 were retrospectively analyzed. Cytogenetics was evaluated with conventional karyotyping or reverse transcriptase polymerase chain reaction. Based on cytogenetic abnormalities, the patients were grouped into five categories, and the outcomes were analyzed. Results: Of the 240 patients, 125 (52%) patients had evaluable cytogenetics. Of these, 77 (61.6%) patients had normal cytogenetics, 19 (15.2%) had t(9;22) translocation, 10 (8%) had unfavorable cytogenetics which included t(9;11), hypodiploidy, and complex karyotype, 10 (8%) had favorable cytogenetics which included t(12;21), t(1;19), and high hyperdiploidy, 9 (7.2%) had miscellaneous cytogenetics. Seventy-one percent of patients were treated with MCP 841 protocol, while 29% of patients received BFM-ALL 95 protocol. The 3-year EFS and OS of the entire group were 52% and 58%, respectively. On univariate analysis, EFS and OS were significantly lower in t(9;22) compared to normal cytogenetics (P = 0.033 and P = 0.0253, respectively) and were not significant for other subgroups compared to normal cytogenetics. On multivariate analysis, EFS was significantly lower for t(9;22) and unfavorable subgroups. Conclusions: Cytogenetics plays an important role in the molecular characterization of ALL defining the prognostic subgroups. Patients with unfavorable cytogenetics and with t(9;22) have poorer outcomes.
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Jara Seguel, P., and C. Palma Rojas. "MORE THAN A CENTURY OF CYTOGENETIC STUDIES IN CHILEAN PLANTS: HOW MUCH HAVE WE PROGRESSED?" Journal of Basic and Applied Genetics 32, Issue 1 (July 2021): 7–10. http://dx.doi.org/10.35407/bag.2021.32.01.01.
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An overview is provided on the cytogenetic of Chilean plants, highlighting information gathered from more than a century of work carried out by foreign and national researchers who have contributed to the study of native species. We briefly present the progress made to date and also emphasize some strategies that, in our opinion, could spur further advances in this second century of cytogenetic studies in Chilean plants. Key words: Cytogenetics, cytogenomics, Chilean plants.
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Jara Seguel, P., and C. Palma Rojas. "MORE THAN A CENTURY OF CYTOGENETIC STUDIES IN CHILEAN PLANTS: HOW MUCH HAVE WE PROGRESSED?" Journal of Basic and Applied Genetics 32, Issue 1 (July 2021): 7–10. http://dx.doi.org/10.35407/bag.2020.32.01.01.
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An overview is provided on the cytogenetic of Chilean plants, highlighting information gathered from more than a century of work carried out by foreign and national researchers who have contributed to the study of native species. We briefly present the progress made to date and also emphasize some strategies that, in our opinion, could spur further advances in this second century of cytogenetic studies in Chilean plants. Key words: Cytogenetics, cytogenomics, Chilean plants.
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Mrózek, Krzysztof, Thomas W. Prior, Colin Edwards, Guido Marcucci, Andrew J. Carroll, Pamela J. Snyder, Prasad R. K. Koduru, et al. "Comparison of Cytogenetic and Molecular Genetic Detection of t(8;21) and inv(16) in a Prospective Series of Adults With De Novo Acute Myeloid Leukemia: A Cancer and Leukemia Group B Study." Journal of Clinical Oncology 19, no. 9 (May 1, 2001): 2482–92. http://dx.doi.org/10.1200/jco.2001.19.9.2482.
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PURPOSE: To prospectively compare cytogenetics and reverse transcriptase–polymerase chain reaction (RT-PCR) for detection of t(8;21)(q22;q22) and inv(16)(p13q22)/t(16;16)(p13;q22), aberrations characteristic of core-binding factor (CBF) acute myeloid leukemia (AML), in 284 adults newly diagnosed with primary AML. PATIENTS AND METHODS: Cytogenetic analyses were performed at local laboratories, with results reviewed centrally. RT-PCR for AML1/ETO and CBFβ/MYH11 was performed centrally. RESULTS: CBF AML was ultimately identified in 48 patients: 21 had t(8;21) or its variant and AML1/ETO, and 27 had inv(16)/t(16;16), CBFβ/MYH11, or both. Initial cytogenetic and RT-PCR analyses correctly classified 95.7% and 96.1% of patients, respectively (P = .83). Initial cytogenetic results were considered to be false-negative in three AML1/ETO-positive patients with unique variants of t(8;21), and in three CBFβ/MYH11-positive patients with, respectively, an isolated +22; del(16)(q22),+22; and a normal karyotype. The latter three patients were later confirmed to have inv(16)/t(16;16) cytogenetically. Only one of 124 patients reported initially as cytogenetically normal was ultimately RT-PCR–positive. There was no false-positive cytogenetic result. Initial RT-PCR was falsely negative in two patients with inv(16) and falsely positive for AML1/ETO in two and for CBFβ/MYH11 in another two patients. Two patients with del(16)(q22) were found to be CBFβ/MYH11-negative. M4Eo marrow morphology was a good predictor of the presence of inv(16)/t(16;16). CONCLUSION: Patients with t(8;21) or inv(16) can be successfully identified in prospective multi-institutional clinical trials. Both cytogenetics and RT-PCR detect most such patients, although each method has limitations. RT-PCR is required when the cytogenetic study fails; it is also required to determine whether patients with suspected variants of t(8;21), del(16)(q22), or +22 represent CBF AML. RT-PCR should not replace cytogenetics and should not be used as the only diagnostic test for detection of CBF AML because of the possibility of obtaining false-positive or false-negative results.
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Blue, Brandon Jamaal, Kristen M. Sanfilippo, Arun Ganti, Jason Gumbel, Katiuscia O'Brian, Suhong Luo, and Ken R. Carson. "Race-Based Differences in Routine Cytogenetic Profiles of Patients with Multiple Myeloma." Blood 124, no. 21 (December 6, 2014): 2619. http://dx.doi.org/10.1182/blood.v124.21.2619.2619.
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Abstract Background: Multiple myeloma (MM) is a common hematologic malignancy for which standard therapy does not offer a cure. Incidence of MM in African-Americans is twice that of Caucasians, suggesting differences in either environmental or genetic risk factors. Historically, black patients have also had a slightly better prognosis than white patients, suggesting racial differences in prognostic factors such as cytogenetics. Since metaphase cytogenetic profiles are routinely collected in MM patients, we sought to determine if race-based differences in cytogenetics exist, using data from the Veterans Health Administration (VHA) cancer registry. Methods: Using CPT codes, 88271-88275, 88291, 88299, 88365, 83896, 88237, 88261-88264, 88280, 88283, and 88285, we identified 988 patients with MM diagnosed between 1998 and 2009, who also had standard metaphase cytogenetic analysis performed on a bone marrow specimen at the time of diagnosis (228 Black and 585 White) . Fisher’s exact test was used to assess for race-based differences in the following cytogenetic abnormalities: 13q deletion, Hypodiploidy, Hyperdiploidy, and translocations involving chromosome 14. Results: Among the 988 patients in the cohort, normal cytogenetic profiles, isolated Y chromosome deletion, or no mitotic activity were observed in 704(71%) patients. Translocations involving the immunoglobulin heavy chain (chromosome 14) (n=4) were uncommonly observed on routine cytogenetics, such that no statistical conclusions could be drawn. Hyperdiploidy was noted in 13/228(5.7%) of the black and 45/585(7.7%) of the white patients (p=0.32). Similarly 13q deletions were detected in 8/228(3.5%) black patients, and 21/585(3.6%) of the white patients (p=0.96). Hypodiploidy was also not significantly different in black 4/228(1.8%) and white patients 12/585(2.0%). Conclusion: This is the largest study of race-based differences in MM cyogenetics presented to date. We found no significant race-based differences in standard metaphase cytogenetics. Future studies should focus on determining if race-based differences can be discovered using fluorescent in situ hybridization (FISH) or molecular testing not available for this retrospective study. Our study adds to this growing body of evidence suggesting that metaphase cytogenetic differences are not a significant factor in MM outcome disparities. Disclosures Carson: Spectrum Pharmaceuticals: Honoraria, Research Funding, Speakers Bureau.
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Walter, Claudia Ulrike, Mouhab Ayas, Amal Alseraihy, Hassan El-Solh, Abdullah Al-Jefri, Ali Al-Ahmari, Asim F. Belgaumi, and Maher Albitar. "Cytogenetic Risk Remains a Major Predictor of Outcome in Pediatric AML and ALL Treated with Allogeneic Stem Cell Transplantation,." Blood 118, no. 21 (November 18, 2011): 3524. http://dx.doi.org/10.1182/blood.v118.21.3524.3524.
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Abstract Abstract 3524 Background: Acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) each represent a heterogeneous group of disorders resulting from diverse mechanisms of leukemogenesis. Cytogenetic abnormalities are considered reliable risk-stratification tools in both AML and ALL. Most studies assessing clinical outcome according to cytogenetic risk consider patients treated with conventional intensive chemotherapy. The impact of cytogenetics on outcome in patients treated uniformly with hematopoietic stem cell transplantation (HSCT), especially in the pediatric group, is not well studied. We evaluated whether allogeneic HSCT has an impact on outcome as predicted by cytogenetic risk at diagnosis. Methods: Bone marrow karyotyping and FISH data from 61 pediatric AML patients and 37 pediatric patients with ALL was reviewed and patients divided into two groups according to their cytogenetic risk: one group combined patients with favorable or intermediate risk and the second group comprised patients with adverse-risk cytogenetics. Cytogenetic risk classification was according to WHO and MRC cytogenetic criteria. The AML cohort included 47 (77%) patients treated in their first remission (CR1) while most non-CR1 AML patients were treated with HSCT in CR2. Of the ALL patients, 18 (49%) were treated with HSCT in CR1. The outcome of patients with either favorable/intermediate cytogenetic risk or adverse cytogenetics was compared for AML and ALL patients, first including all patients, then including only CR1 patients. The median age of patients was 8 years (range: 9 months to 13 years). Results: Patients with ALL and favorable / intermediate cytogenetics had significantly longer overall survival (OS) and event-free survival (EFS) as compared with the adverse-risk group (P=0.02 and P=0.03 for OS and EFS, respectively). A similar trend was observed when only CR1 ALL patients were evaluated, although their number is small. Notably, separation between the CR1 ALL and CR2 ALL groups was stronger when only Philadelphia chromosome positive and MLL positive patients were considered (P=0.01 for OS and EFS for all patients; P=0.003 for OS and EFS for CR1patients only). Also for pediatric AML, combined favorable / intermediate-risk cytogenetics was associated with significantly longer OS (P=0.03) and EFS (P=0.04) when all patients were included (Fig. 1). A similar trend was obtained when only CR1 AML patients were considered (P=0.03 for both OS and EFS). Conclusions: This study suggests that stratification of AML and ALL in pediatric patients according to their cytogenetic risk remains relevant even when treated with HSCT and irrespective if patients were treated in CR1 or CR2 after relapse. In particular, MLL gene rearrangements and the Philadelphia chromosome remain poor prognostic factors in pediatric ALL despite HSCT treatment. Disclosures: No relevant conflicts of interest to declare.
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Amol Z., Drugkar. "Cytogenetic Study In Male Infertility." IOSR Journal of Dental and Medical Sciences 5, no. 2 (2013): 5–11. http://dx.doi.org/10.9790/0853-0520511.
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Vagner-Capodano, A. M., H. Zattara-Cannoni, D. Gambarelli, D. Figarella-Branger, G. Lena, H. Dufour, F. Grisoli, and M. Choux. "Cytogenetic Study of 33 Ependymomas." Cancer Genetics and Cytogenetics 115, no. 2 (December 1999): 96–99. http://dx.doi.org/10.1016/s0165-4608(99)00080-1.
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Dayakar, S., S. Vanajakshi, Amina Sheik, Srinivas Chakravarthy, K. Iravathy Goud, SJ Babu, and K. Vijaya Lakshmi. "Cytogenetic Study of Myelodysplastic Syndrome." Apollo Medicine 7, no. 1 (March 2010): 46–50. http://dx.doi.org/10.1016/s0976-0016(12)60007-6.
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Ganguly, B., M. Ghosh, D. Banerjee, and S. Chandra. "117 Cytogenetic study of MDS." Leukemia Research 35 (May 2011): S45. http://dx.doi.org/10.1016/s0145-2126(11)70119-9.
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Bettio, Daniela, Nicoletta Rizzi, Daniela Giardino, Luca Persani, Francesca Pecori-Giraldi, Marco Losa, and Lidia Larizza. "Cytogenetic study of pituitary adenomas." Cancer Genetics and Cytogenetics 98, no. 2 (October 1997): 131–36. http://dx.doi.org/10.1016/s0165-4608(96)00426-8.
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Cutillas, C., D. C. Guevara, A. Valero, and C. Ariza. "Protostrongylus rufescens: a cytogenetic study." Journal of Helminthology 61, no. 1 (March 1987): 72–76. http://dx.doi.org/10.1017/s0022149x00009755.
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ABSTRACTThe diploid chromosome number of Protostrongylus rufescens is 2n=11 for males and 2n=12 for females. So, the sex determinism mechanism is XO/XX. The study of the genetic behaviour of this species has been made. In diakinesis stage the bivalents show typical tetrads with cross, Ø, and lineal configurations. The division of the sexual chromosome is prereductional for the first meiotic division.
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LESSARD, M., S. STRUSKI, V. LEYMARIE, G. FLANDRIN, M. LAFAGEPOCHITALOFF, M. MOZZICONACCI, P. TALMANT, C. BASTARD, C. CHARRIN, and L. BARANGER. "Cytogenetic study of 75 erythroleukemias." Cancer Genetics and Cytogenetics 163, no. 2 (December 2005): 113–22. http://dx.doi.org/10.1016/j.cancergencyto.2005.05.006.
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Rogatto, SR, and C. Casartelli. "Cytogenetic study of human neurinomas." Cancer Genetics and Cytogenetics 41, no. 2 (September 1989): 278. http://dx.doi.org/10.1016/0165-4608(89)90351-8.
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Prescher, G., R. Becher, and N. Bornfeld. "Cytogenetic study of intraocular melanomas." Cancer Genetics and Cytogenetics 38, no. 2 (April 1989): 158. http://dx.doi.org/10.1016/0165-4608(89)90543-8.
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Webb, Heather D., and Constance A. Griffin. "Cytogenetic study of acoustic neuroma." Cancer Genetics and Cytogenetics 56, no. 1 (October 1991): 83–84. http://dx.doi.org/10.1016/0165-4608(91)90365-2.
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Rainho, Cláudia Aparecida, Silvia Regina Rogatto, Lamartine Correa de Moraes, and José Barbieri-Neto. "Cytogenetic study of a pineocytoma." Cancer Genetics and Cytogenetics 64, no. 2 (December 1992): 127–32. http://dx.doi.org/10.1016/0165-4608(92)90341-5.
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Herrmann, Marille E., Gary B. Talpos, Katrina Trevor, Sandra R. Wolman, Anwar N. Mohamed, and Peter A. Lalley. "Cytogenetic study of two gastrinomas." Cancer Genetics and Cytogenetics 63, no. 2 (October 1992): 139. http://dx.doi.org/10.1016/0165-4608(92)90458-k.
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Aide, Yang, Fei Hongbao, Liu Shumao, and Chu Jiayou. "68 Cytogenetic study on leukemia." Cancer Genetics and Cytogenetics 28, no. 1 (September 1987): 46. http://dx.doi.org/10.1016/0165-4608(87)90347-5.
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Ferti, Angeliki D., Anna D. Panani, and Sotirios Raptis. "Cytogenetic study of rectosigmoidal adenocarcinomas." Cancer Genetics and Cytogenetics 34, no. 1 (August 1988): 101–9. http://dx.doi.org/10.1016/0165-4608(88)90174-4.
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Goswami, Dibyajyoti, Roonmoni Deka, Giriraj Kusre, and Jyotirmoyee Lahon. "Primary amenorrhea: A cytogenetic study." Journal of the Anatomical Society of India 64 (September 2015): S31. http://dx.doi.org/10.1016/j.jasi.2015.07.346.
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Rumpler, Y., S. Warter, M. Hauwy, V. Randrianasolo, and B. Dutrillaux. "Cytogenetic study of Hapalemur aureus." American Journal of Physical Anthropology 86, no. 1 (September 1991): 81–84. http://dx.doi.org/10.1002/ajpa.1330860107.
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