Relevant bibliographies by topics / Cytogenetic abnormalities

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Academic literature on the topic 'Cytogenetic abnormalities'

Author: Grafiati
Published: 4 June 2021
Last updated: 16 February 2022

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Journal articles on the topic "Cytogenetic abnormalities"

1

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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Souza, Cármino Antonio de. "Age and cytogenetic abnormalities." Hematology, Transfusion and Cell Therapy 40, no. 3 (July 2018): 199. http://dx.doi.org/10.1016/j.htct.2018.01.004.

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Quessada, Julie, Wendy Cuccuini, Paul Saultier, Marie Loosveld, Christine J. Harrison, and Marina Lafage-Pochitaloff. "Cytogenetics of Pediatric Acute Myeloid Leukemia: A Review of the Current Knowledge." Genes 12, no. 6 (June 17, 2021): 924. http://dx.doi.org/10.3390/genes12060924.

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Pediatric acute myeloid leukemia is a rare and heterogeneous disease in relation to morphology, immunophenotyping, germline and somatic cytogenetic and genetic abnormalities. Over recent decades, outcomes have greatly improved, although survival rates remain around 70% and the relapse rate is high, at around 30%. Cytogenetics is an important factor for diagnosis and indication of prognosis. The main cytogenetic abnormalities are referenced in the current WHO classification of acute myeloid leukemia, where there is an indication for risk-adapted therapy. The aim of this article is to provide an updated review of cytogenetics in pediatric AML, describing well-known WHO entities, as well as new subgroups and germline mutations with therapeutic implications. We describe the main chromosomal abnormalities, their frequency according to age and AML subtypes, and their prognostic relevance within current therapeutic protocols. We focus on de novo AML and on cytogenetic diagnosis, including the practical difficulties encountered, based on the most recent hematological and cytogenetic recommendations.
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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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Tam, Constantine S., Lynne V. Abruzzo, Katherine I. Lin, Jorge Cortes, Alice Lynn, Michael J. Keating, Deborah A. Thomas, Sherry Pierce, Hagop Kantarjian, and Srdan Verstovsek. "The role of cytogenetic abnormalities as a prognostic marker in primary myelofibrosis: applicability at the time of diagnosis and later during disease course." Blood 113, no. 18 (April 30, 2009): 4171–78. http://dx.doi.org/10.1182/blood-2008-09-178541.

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Abstract Although cytogenetic abnormalities are important prognostic factors in myeloid malignancies, they are not included in current prognostic scores for primary myelofibrosis (PMF). To determine their relevance in PMF, we retrospectively examined the impact of cytogenetic abnormalities and karyotypic evolution on the outcome of 256 patients. Baseline cytogenetic status impacted significantly on survival: patients with favorable abnormalities (sole deletions in 13q or 20q, or trisomy 9 ± one other abnormality) had survivals similar to those with normal diploid karyotypes (median, 63 and 46 months, respectively), whereas patients with unfavorable abnormalities (rearrangement of chromosome 5 or 7, or ≥ 3 abnormalities) had a poor median survival of 15 months. Patients with abnormalities of chromosome 17 had a median survival of only 5 months. A model containing karyotypic abnormalities, hemoglobin, platelet count, and performance status effectively risk-stratified patients at initial evaluation. Among 73 patients assessable for clonal evolution during stable chronic phase, those who developed unfavorable or chromosome 17 abnormalities had median survivals of 18 and 9 months, respectively, suggesting the potential role of cytogenetics as a risk factor applicable at any time in the disease course. Dynamic prognostic significance of cytogenetic abnormalities in PMF should be further prospectively evaluated.
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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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Wolanskyj, Alexandra P., Naseema Gangat, Susan M. Schwager, Rhett P. Ketterling, and Ayalew Tefferi. "Cytogenetic Abnormalities in Essential Thrombocythemia: Prevalence and Prognostic Significance." Blood 108, no. 11 (November 16, 2006): 3626. http://dx.doi.org/10.1182/blood.v108.11.3626.3626.

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Abstract Objectives: We conducted a study to describe the cytogenetic findings as well as clinical correlates and long-term prognostic relevance of abnormal cytogenetics at the time of diagnosis of Essential thrombocythemia (ET), in terms of clinical presentation, disease transformation into more aggressive myeloid disorders, and life expectancy. Patients and Methods: The study cohort consisted of a consecutive group of patients with ET who fulfilled the World Health Organization (WHO) diagnostic criteria, in whom bone marrow biopsy was performed at diagnosis, with interpretable cytogenetic analysis obtained in all cases. Results: A total of 403 patients were studied (median age, 56 years; median follow-up 64 months). The prevalence of abnormal cytogenetics at presentation was 6.7 % (27 of 403). The most common cytogenetic anomalies identified included trisomy 9 (4 patients), trisomy 8 (3 patients) and deletion 20q (3 patients). Parameters at diagnosis that were significantly associated with abnormal cytogenetics included palpable splenomegaly (p=0.03), current tobacco use (p=0.04); venous thrombosis (p= 0.019), extreme thrombocytosis (i.e., platelet count >1500 × 109/L, p = 0.03) and anemia with a hemoglobin of less than 10 g/dl (p=0.02); but did not include Jak2 mutation status, nor advanced age (≥ 60 years). During follow up, patients with abnormal cytogenetics were more likely to experience venous thrombosis (p=0.02) but not shorter survival [figure 1], transformation to AML, MDS or MMM, nor a greater requirement for cytotoxic therapy. Conclusion: Cytogenetic anomalies at presentation are relatively uncommon in ET, and do not predict a greater predilection towards evolution into more aggressive myeloid disorders, nor inferior survival. Fig. 1 Overall Survival According to Normal vs Abnormal Karyotype Fig. 1. Overall Survival According to Normal vs Abnormal Karyotype
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Klamova, Hana, Jana Brezinova, Kyra Michalova, Zuzana Zemanova, and Marek Trneny. "Cytogenetic Clonal Evolution in Chronic Myeloid Leukemia during Imatinib Mesylate Treatment." Blood 106, no. 11 (November 16, 2005): 4844. http://dx.doi.org/10.1182/blood.v106.11.4844.4844.

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Abstract Cytogenetic clonal evolution (CE) - the presence of cytogenetic abnormalities in addition to the Ph chromosome in chronic myeloid leukemia (Ph+ CML) is a known poor prognostic factor associated with disease progression. Occurence of additional cytogenetic abnormalities in both Ph positive and Ph negative mitoses was also described in imatinib treated CML patients and was associated with occuring therapy resistance. The long - term significance is so far poorly understood. Objective. To monitor cytogenetic abnormalities in chronic phase CML patients on imatinib treatment, following long-term interferon alfa (IFN) or hydroxyurea treatment. To compare the haematological disease progression in patients with or without cytogenetic evolution Patients and methods: Cytogenetic evolution was analyzed in 57 patients (median age 56, range 18–73) treated with imatinib in chronic phase, following interferon resistance or intolerance. The duration of IFN application was 22 months (range 3 – 46 months), duration of imatinib treatment was 16 months (range 6 – 55 months). Cytogenetic abnormalities were detected by conventional cytogenetics - caryotype analysis and fluorescence in situ hybridisation (FISH). Results: Complete cytogenetic remission was accomplished in 55 of 57 pts (96%) on imatinib, significant or complete cytogenetic response was observed in 36 of 57 patients (66%). Cytogenetic evolution was observed in 11 patients (19%) treated with imatinib: in the Ph+ clone (9 cases) and in the Ph− clone (2 cases). Median duration of imatinib treatment before the CE identification was 16 months (range 7–36 months). The most common additional abnormality was trisomy 8 (8 pts), second Ph chromosome (4 pts), and del (17) (4 pts). In 5 cases we observed the simultaneous occurence of two different cytogenetic abnormalities. Haematological progression was observed in 7 of 11 patients (63%) following 2 – 22 months imatinib treatment (median 9 months). 5 pts (46%) exited. Six patients live 8–22 months from the detection of cytogenetic evolution. Secondary malignancy was diagnosed in 1 patient. In the group of patients without cytogenetic evolution haematological progression was observed only in 9 of 46 (19.5%) cases, 4 patients died (14.3%). Conclusion: The role of IM concerning the cytogenetic evolution occurence in CML patients is not so far clear, the suppression of the Ph+ clone could enhance the proliferation of resistant ones. In our group of patients CE was documented in 11 patients (19%), in both Ph+ and Ph− cells. Significantly higher was the risk of haematological progression. CML patients treated with imatinib should be regularly monitored with conventional cytogenetic techniques, not only to follow the decrease in the proportion of Ph-positive cells, but also to look for new especially Ph-negative clonal chromosomal abnormalities. A longer follow-up time and systematic monitoring of cytogenetics is needed to establish the prognostic impact of clonal evolution in CML patients treated with imatinib.
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Najfeld, Vesna, Joseph Tripodi, Marina Kremanskaya, John Mascarenhas, and Ronald Hoffman. "Peripheral Blood Karyotyping Is Superior To Bone Marrow and Identifies Most Frequent Structural Chromosomal Rearrangements In Myelofibrosis." Blood 122, no. 21 (November 15, 2013): 3727. http://dx.doi.org/10.1182/blood.v122.21.3727.3727.

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Abstract In the past cytogenetic studies of patients with MF were hindered because marrow (BM) specimens were used for karyotyping but frequently could not be obtained due to advanced marrow fibrosis. Since MF is characterized by the constitutive mobilization of immature myeloid cells into the peripheral blood (PB), we compared unstimulated PB specimens with BM specimens to determine their utility in successfully detecting cytogenetic abnormalities in patients with MF. We also simultaneously performed interphase FISH (IFISH) studies in order to determine if IFISH identified additional genomic abnormalities in MF. We evaluated 183 patients who had had successful conventional and molecular cytogenetic analyses. Our myeloproliferative neoplasm ( MPN)-FISH panel consisted of twelve probes (EGR1 at 5q31, D5S23 at 5p15.3, D7Z1 at 7p11-q11, D7S522 at 7q31, D8Z2 at 8p11-q11, CDKN2A at 9p21, CEP9 at 9p11-q11, ATM at 11q22,1, Rb1 at 13q14, and D20S18 at 20q12, CKS1B at 1q21 and CDKN2C at 1p32). BM cytogenetics was studied in 60 pts (33%) and PB cytogenetics were evaluated in 123 pts (67%). Conventional cytogenetics was informative for 96% (123/128) of PB specimens and 97% (60/62) of BM samples. When conventional cytogenetic analysis was compared to IFISH, concordant results were observed in 154 patients (84%). Moreover, conventional karyotyping identified chromosomal abnormalities in an additional 18 patients (10%), which were not targeted by the 12 loci FISH panel. Among these patients, structural abnormalities of chromosome 12 were detected in 6 patients (33%) which represents the most frequent structural abnormality detected in MF and was associated with poor survival. Of the 63 patients with concordant abnormal cytogenetics and FISH the most frequent abnormalities included: del(20)(q11q13) (n=30, 48%), unbalanced 1q translocations resulting in trisomy 1q or duplication of 1q (n=17, 27%), gain of chromosome 8 (n=9, 14%), +8,+9( n=4, 6%), trisomy 9 (n=4, 6%), del(7q)/-7( n=7,11%), deletion 13q (n=9,14%) and complex karyotype (n=16, 25%). The remaining 11pts (6%) had discordant conventional and molecular cytogenetic results and were divided into two categories: A) those with normal cytogenetics (with or without non clonal abnormalities) and an abnormal MPN IFISH panel and B) those with abnormal clonal karyotype with normal lFISH. When compared to BM, PB specimens had a similar rate of abnormal karyotype: 51% in PB vs 48% in BM. Our results unequivocally demonstrated that conventional cytogenetics of MF can be successfully obtained from unstimulated PB specimens in 96% of patients and that analysis of BM does not reveal additional cytogenetic abnormalities. We conclude that FISH analysis has limited value in MF and is only informative for those patients who lack mitotic cells or who are cytogenetically normal, and in these patients, IFISH detects cryptic abnormalities in 4%. Use of PB karyotyping in MF is sufficient to effectively detects clonal hematopoiesis which contributes to prognostic risk stratification and influences therapeutic decision making. Disclosures: No relevant conflicts of interest to declare.
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Rai, Vandana. "Autism Genetics and Cytogenetic Abnormalities." Trends in Molecular Sciences 3, no. 1 (January 1, 2011): 1–13. http://dx.doi.org/10.3923/tms.2011.1.13.

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Dissertations / Theses on the topic "Cytogenetic abnormalities"

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Carter, S. A. "Novel cytogenetic abnormalities in cervical squamous cell carcinoma." Thesis, University of Cambridge, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.597332.

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SCC cell lines were karyotyped to identify recurrent aberrations and those providing a selective advantage in individual cases. Karyotypic heterogeneity provided evidence for ongoing chromosomal instability (CIN) in all cell lines but revealed discordance between the levels of numerical CIN (N-CIN) and structural CIN (S-CIN), supporting the notion that different mechanisms underlie these processes. This molecular cytogenetic analysis identified a novel reciprocal translocation t(8:12)(p21.3;p13.31) present in all cells of the SCC cell line MS751, indicative of a selective advantage. The rearrangement resulted in two novel fusion genes, PEX5-LPL on der(8) and LPL-PEX5 on der(12). LPL-PEX5 encodes a truncated transcript but PEX5-LPL encodes a full length chimeric protein, comprising the first exon of PEX5 followed by the majority of LPL coding region, and is the most likely candidate for having driven selection of the translocation. Reverse transcription PCR was used to show that LPL is generally expressed at negligible levels in the cervix whereas PEX5 is expressed constitutively. In concordance, PEX5-LPL was expressed at substantially higher levels than LPL-PEX5. The function of PEX5-LPL might be to drive aberrant expression of the 3’ partner or the chimeric protein might have a modified or novel function. Overexpression of LPL relative to normal cervix was found in over one third of cervical SCC cell lines and primary tumour samples, suggesting it is common in cervical SCC. Findings suggest that PEX5-LPL and LPL overexpression have similar roles in cervical carcinogenesis; functional studies of overexpression elucidated a role for both proteins in increased cellular invasion. The functionally important domain might be shared between these proteins and is most likely to be in the C terminal region of LPL. This C terminal domain may be considered as a novel candidate for targeted therapy of cervical SCC.
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Chase, Andrew John. "Cytogenetic and molecular characterisation of chromosome 13 abnormalities in leukaemia." Thesis, Imperial College London, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325910.

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Conn, Clare Maria. "Molecular cytogenetic analysis of chromosome abnormalities in early human embryos." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.399168.

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Butler, Lisa H. "Chromosome translocations in haematopoietic neoplasms." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.360209.

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Pan, Yi. "Molecular cytogenetic investigations of chromosomal abnormalities in prostate and urinary bladder cancers /." Stockholm, 2000. http://kib.ki.se/2000/91-628-4296-X/.

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Connor, Jessica. "Chromosomal abnormalities identified in infants with congenital heart disease." University of Cincinnati / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307441785.

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Kempski, Helena Maria. "A molecular cytogenetic study of chromosome regions 11q23 and 21q22 in childhood leukaemia." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.313659.

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Greeff, Christopher Whitney 1961. "CYTOGENETIC ABNORMALITIES AND THE PROGRESSION TO INVASION IN A375P HUMAN MELANOMA CELLS IN VITRO." Thesis, The University of Arizona, 1987. http://hdl.handle.net/10150/276462.

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A study was undertaken to determine whether cytogenetic abnormalities can be identified in an invasive melanoma cell population that has been selected in vitro out of a larger cell population of low invasive potential. The selecting agent was a denuded human amniotic membrane situated within Mega-Membrane Invasion Culture System chambers. Invasive cells were collected, grown, and harvested for cytogenetic analysis. Metaphases of these cells were examined for chromosomal abnormalities and for evidence of gene amplification in the form of double minute chromosomes. Invasive cell lines evinced changes in their degree of aneuploidy which were not seen in parental control lines of the same passage number. Significant karyotypic abnormalities identified in invasive cell lines were an increased dosage of chromosome 7 and multiple 1q translocation marker chromosomes. Double minute chromosomes were found in up to 18% of invasive cell metaphases examined and in 3% of parental controls. The incidence of double minutes was found to decrease as a function of passage number.
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BELL, CARL WAYNE. "CYTOGENETIC EVALUATION OF HUMAN GLIAL TUMORS: CORRELATION OF OVEREXPRESSION OF EPIDERMAL GROWTH FACTOR RECEPTOR (EGFR) WITH ABNORMALITIES OF CHROMOSOME 7." Diss., The University of Arizona, 1987. http://hdl.handle.net/10150/184108.

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Chromosome banding analysis of human glial tumors was performed using G- and Q-banding techniques in an attempt to establish recurring sites of chromosome change. Results revealed a nonrandom karyotypic profile including aneuploidy and considerable variation in chromosome number (range 40 → 200). All tumors examined displayed numerical abnormalities, with the most common numeric change being a gain of chromosome 7. Chromosomes most frequently involved in structural abnormalities included #1, #3, #7, and #11. Double minutes, reported to be frequently associated with human glial tumors, were observed in only one of ten tumors examined. These results (taken in conjunction with previously published reports) suggest that the single most frequently altered chromosome in human glial tumors is chromosome 7. An attempt was then made to correlate the observed chromosome 7 changes with activation of the cellular proto-oncogene c-erb-B, whose product is the epidermal growth factor receptor (EGFR). Six human glial tumors were analyzed for ¹²⁵I-EGF binding, EGFR gene copy number, EGFR gene rearrangement, mRNA expression, and karyotypic profile. Saturation analysis at 4°C revealed significant numbers of EGFR's in all 6 tumors. Southern blotting analysis utilizing cDNA probes for the EGFR failed to demonstrate significant amplification or structural rearrangement of the EFGR gene. Analysis of EGFR mRNA revealed significant levels in 3 of the tumors studied as compared to the A341 cell line. Karyotypic analysis revealed that all six cell lines displayed extra copies of both whole and structurally altered chromosome 7. These results may suggest that EGFR overexpression is associated with alterations of chromosome 7 (the locus for the EGFR gene). In contrast to previous reports, EGFR mRNA levels did not directly parallel EGF receptor numbers. These results suggest that overexpression of the EGFR may be related to an alternative mechanism, other than gene amplification and elevated mRNA levels, such as the regulation of receptor biosynthesis and degradation. In summary, findings indicate that alterations of chromosome 7 are the most prevalent chromosomal change in human glial tumors, and that these alterations may lead to overexpression of the proto-oncogene c-erb-B.
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Fragouli, Elpida. "The detection of chromosomal abnormalities in human oocytes and preimplantation embryos by molecular cytogenetic analysis." Thesis, University College London (University of London), 2005. http://discovery.ucl.ac.uk/1445491/.

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Chromosome abnormalities are observed very frequently in humans. Several types of structural chromosome abnormalities have been identified, with chromosome translocations, both reciprocal and Robertsonian, being the most common in the population. Balanced carriers of such rearrangements could be at risk of generating abnormal offspring due to the meiotic segregation of the translocation. Preimplantation Genetic Diagnosis (PGD) has allowed the extensive cytogenetic investigation of embryos from such patients with the application of Fluorescent in situ hybridisation (FISH). The first part of this work involved the development of robust three-colour FISH protocols for their clinical application for the PGD for three reciprocal translocations, two different Robertsonian translocations and two cases of suspected gonadal mosaicism. Five of these patients underwent 1-2 cycles of treatment, and 21 normal/balanced embryos were detected and transferred to the maternal uterus. One clinical pregnancy was established with a subsequent live birth of a healthy male infant in a case of a female reciprocal translocation carrier. Extensive FISH examination of the non-transferred embryos showed evidence of post-zygotic mosaicism in 73.4% of them, with chaotic embryos predominating. Both meiotic and mitotic mechanisms leading to chromosome gain and/or loss were identified in this group of embryos.
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Books on the topic "Cytogenetic abnormalities"

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Standing Committee on Human Cytogenetic Nomenclature. ISCN 1985-- An international system for human cytogenetic nomenclature (1985): Report of the Standing Committee on Human Cytogenetic Nomenclature. Edited by Harnden D. G, Kaelbling Margot, Klinger Harold P, and March of Dimes Birth Defects Foundation. Basel: Karger, 1985.

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Veenema, Henk. Clinical, cytogenetic and molecular aspects of the fragile-X syndrome. Amsterdam/Haarlem: Uitgeverij Thesis, 1989.

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Hamta, Ahmad. The BDII rat model of endometrial cancer: Molecular analysis of genetic and cytogenetic aberrations. Göteborg: Department of Cell and Molecular Biology-Genetics, Lundberg Institute, Göteborg University, 2006.

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Hamta, Ahmad. The BDII rat model of endometrial cancer: Molecular analysis of genetic and cytogenetic aberrations. Göteborg: Department of Cell and Molecular Biology-Genetics, Lundberg Institute, Göteborg University, 2006.

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G, Shaffer Lisa, Slovak Marilyn L, and Campbell Lynda J, eds. ISCN 2009: An international system for human cytogenetic nomenclature (2009). Basel: Karger, 2009.

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G, Shaffer Lisa, and Tommerup Niels, eds. ISCN 2005: An international system for human cytogenetic nomenclature (2005) : recommendations of the International Standing Committee on Human Cytogenetic Nomenclature. Basel: Karger, 2005.

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Meeting, Italian Society for Inborn Error Diseases. Progress in mitochondrial, mendelian, and chromosomal disorders: Proceedings of the 5th Meeting of the Italian Society for Inborn Error Diseases in conjunction with the Italian Society of Medical Genetic and Italian Society of Medical Cytogenetic, Acireale, Catania, September 1984. Milano: Edi-Ermes, 1985.

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Felix, Mitelman, ed. Cancer cytogenetics. New York: A.R. Liss, 1987.

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Felix, Mitelman, ed. Cancer cytogenetics. 3rd ed. Hoboken, N.J: John Wiley & Sons, 2009.

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Felix, Mitelman, ed. Cancer cytogenetics. 2nd ed. New York: Wiley-Liss, 1995.

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Book chapters on the topic "Cytogenetic abnormalities"

1

Juliusson, Gunnar. "Common Cytogenetic Abnormalities." In Chronic Lymphocytic Leukemia, 163–71. Totowa, NJ: Humana Press, 2004. http://dx.doi.org/10.1007/978-1-59259-412-2_8.

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Evans, H. J. "Neoplasia and Cytogenetic Abnormalities." In Aneuploidy, 165–78. Boston, MA: Springer US, 1985. http://dx.doi.org/10.1007/978-1-4613-2127-9_11.

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Campbell, L., J. Brown, O. M. Garson, and G. Morstyn. "Cytogenetic Abnormalities in Lung Cancer." In Basic and Clinical Concepts of Lung Cancer, 123–36. Boston, MA: Springer US, 1989. http://dx.doi.org/10.1007/978-1-4613-1593-3_8.

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Durie, Brian G. M., Elizabeth E. Vela, and Valerie Baum. "Cytogenetic Abnormalities in Multiple Myeloma." In Epidemiology and Biology of Multiple Myeloma, 137–42. Berlin, Heidelberg: Springer Berlin Heidelberg, 1991. http://dx.doi.org/10.1007/978-3-642-76655-8_22.

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Grebe, Stefan K. G., Norman L. Eberhardt, and Robert B. Jenkins. "Cytogenetic Abnormalities Associated with Endocrine Neoplasia." In Human Cytogenetic Cancer Markers, 369–401. Totowa, NJ: Humana Press, 1997. http://dx.doi.org/10.1007/978-1-4612-3952-9_14.

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Fonseca, Rafael, P. Leif Bergsagel, and W. Michael Kuehl. "Cytogenetic Abnormalities in MGUS and Myeloma." In Neoplastic Diseases of the Blood, 589–99. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-3764-2_30.

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Wall, Meaghan. "Recurrent Cytogenetic Abnormalities in Myelodysplastic Syndromes." In Methods in Molecular Biology, 209–22. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4939-6703-2_18.

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Chan, Nelson Chun Ngai, and Natalie Pui Ha Chan. "Recurrent Cytogenetic Abnormalities in Multiple Myeloma." In Methods in Molecular Biology, 295–302. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4939-6703-2_23.

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O’Leary, Timothy J. "Nucleic Acid Amplification Methods for Identifying Cytogenetic Abnormalities." In Human Cytogenetic Cancer Markers, 71–91. Totowa, NJ: Humana Press, 1997. http://dx.doi.org/10.1007/978-1-4612-3952-9_4.

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Yang, John J., Tae Sung Park, and Thomas S. K. Wan. "Recurrent Cytogenetic Abnormalities in Acute Myeloid Leukemia." In Methods in Molecular Biology, 223–45. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4939-6703-2_19.

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Conference papers on the topic "Cytogenetic abnormalities"

1

Hida, Kyoko, Tomoshige Akino, Yasuhiro Hida, Kunihiko Tsuchiya, Deborah Freedman, Chikara Muraki, Noritaka Ohga, et al. "Abstract 1308: Cytogenetic abnormalities of tumor endothelial cells in human malignant tumors." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-1308.

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Chernoff, Meytal B., Madina Sukhanova, Liz Stepniak, Wei Zhang, and Brian C. Chiu. "Abstract 4233: Racial differences in patterns of cytogenetic abnormalities in multiple myeloma." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-4233.

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Patel, Preeya, Manisha Bhutani, Kyle Madden, Myra R. Robinson, Rupali Bose, James Symanowski, and Saad Z. Usmani. "Abstract B41: Distribution of cytogenetic abnormalities in African American multiple myeloma patients may be unique for different geographic regions." In Abstracts: Eighth AACR Conference on The Science of Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; November 13-16, 2015; Atlanta, Georgia. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7755.disp15-b41.

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TRUKHACHEV, Vladimir, Sergey OLEYNIK, and Nikolay ZLYDNEV. "FEATURES OF THE KARYOTYPE OF NORTH CAUCASUS AYRSHIRE DAIRY CATTLE POPULATION: DEFECTS IN REPRODUCTIVE FUNCTIONS." In RURAL DEVELOPMENT. Aleksandras Stulginskis University, 2018. http://dx.doi.org/10.15544/rd.2017.141.

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Abstract:
One of the ways of improving the genotypes of dairy cattle in Russia is to increase the proportion of the Ayrshire breed, which can be justly claimed to be one of the best dairy breeds in the world. However, due to the prevalence of large-scale breeding technologies, which involves the use of a limited contingent of dairy cattle bulls, including but not limited to the Ayrshire breed, the emergence of new-born calves with various anomalies, including chromosomal, which commonly have a hereditary basis attributable to gene mutations have been observed. Given that the bulk of these anomalies are acquired by recessive inheritance, they may not always manifest themselves in the phenotype and thus represent a hidden genetic load. In recent years, the significance of cytogenetic analysis and karyotyping is becoming increasingly important, not only when considering the theoretical assumptions, but also when solving applied problems aimed at preventing damage to agricultural production. This article presents the results of the cytogenetic analysis of Ayrshire cattle affected by reproductive problems. The following has been established: an absence of changes in the diploid set of the investigated dairy cattle (2n = 60); the presence of aberrant cells, whose frequency of occurrence amounted to 3.6% in the population of 440 head (number of aberrations per aberrant cell researched – 0.036 / 1.0); the absence of reciprocal translocations in the karyotype of the investigated population. It is suggested that the existing Ayrshire sires Hannulan Yaskiyri, Riihiviidan Urho Errant, O.R.Lihting and their descendants do not have a genetic load of chromosomal abnormalities.
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