Bibliographies thématiques / Cytogenetic study

Littérature scientifique sur le sujet « Cytogenetic study »

Auteur : Grafiati
Publié le 18 mai 2024

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Articles de revues sur le sujet "Cytogenetic study"

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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 (2 décembre 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 et T. H. N. Ellis. « The relationship between genetic and cytogenetic maps of pea. I. Standard and translocation karyotypes ». Genome 40, no 5 (1 octobre 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 et 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 (16 novembre 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 (&lt;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 &lt;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 et 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 (15 novembre 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 (27 octobre 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 (15 décembre 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 &lt; .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 &lt; .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 (15 décembre 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 et Jeremy A. Squire. « Molecular cytogenetic analysis in the study of brain tumors : findings and applications ». Neurosurgical Focus 19, no 5 (novembre 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 et Ayalew Tefferi. « Cytogenetic Studies at Diagnosis in Polycythemia Vera : Clinical and JAK2V617F Allele Burden Correlates. » Blood 110, no 11 (16 novembre 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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Thèses sur le sujet "Cytogenetic study"

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Chettri, Rabindra. « Cytogenetic study of the ethnic groups of Mongolian origin inhabiting North Bengal and adjoining areas ». Thesis, University of North Bengal, 1989. http://hdl.handle.net/123456789/866.

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Sandros, Jens. « Salivary gland tumorigenesis a cytogenetic and molecular study / ». Göteborg : Faculty of Odontology, University of Göteborg, University of Göteborg, 1989. http://catalog.hathitrust.org/api/volumes/oclc/20361247.html.

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鄧焯安 et Cheuk-on Tang. « Cytogenetic and molecular study of oesophageal squamous cellcarcinoma ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2001. http://hub.hku.hk/bib/B31242327.

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Tawn, E. J. « A cytogenetic study of radiation workers and control individuals ». Thesis, University of Newcastle Upon Tyne, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.377439.

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Mackay, James Morrison. « Inflammatory bowel disease and sulphasalazine therapy : a cytogenetic study ». Thesis, University of Aberdeen, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.375918.

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Ulcerative colitis and Crohn's colitis are chronic inflammatory bowel diseases that occur with a high frequency in the North-East of Scotland. They are diseases of adolescents and young adults, although they may have their onset at any age. The aetiology is largely unknown. Oral sulphasalazine is used as the treatment of choice for the prevention of relapses. At present there is no satisfactory alternative and so, on present practice, patients may take the drug indefinitely after diagnosis of the disease. Inflammatory bowel disease itself does not increase the levels of sister chromatid exchange and micronuclei observed in the lymphocytes of the patients. Patients receiving sulphasalazine therapy, however, have significantly elevated levels of sister chromatid exchange and micronuclei in their lymphocytes compared to control individuals. In addition, patients show a significant elevation in sister chromatid exchange and micronuclei frequencies after commencing sulphasalazine therapy. The length of time on sulphasalazine is influential in determining the sister chromatid exchange frequency as is the acetylator phenotype of the patient. Sister chromatid exchange frequencies appear to remain elevated for many months after cessation of therapy, suggesting that the lesions produced by the sulphasalzine therapy are long-lived. In vitro studies have shown that sulphasalazine induces both sister chromatid exchange and micronuclei in human lymphocytes, whereas sulphapyridine and its acetylated metabolites induce only sister chromatid exchanges. 5-aminosalicylic acid, the active moiety of sulphasalazine, and its acetylated metabolite do not induce sister chromatid exchange or micronuclei at the concentrations tested. The present and future use of sulphasalazine therapy should be evaluated in light of these results, and the use of new drugs, based on the 5-aminosalicylic moiety should be encouraged to reduce the potential genetic risk to the patients.
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Tang, Cheuk-on. « Cytogenetic and molecular study of oesophageal squamous cell carcinoma / ». Hong Kong : University of Hong Kong, 2001. http://sunzi.lib.hku.hk:8888/cgi-bin/hkuto%5Ftoc%5Fpdf?B23339834.

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Xue, Weicheng, et 薛衛成. « Molecular cytogenetic, epigenetic and tissue dynamic study of gestational trophoblastic disease ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2004. http://hub.hku.hk/bib/B45015144.

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Gerster, Jean Louise. « A cytogenetic study of factors affecting sister chromatid exchange in Vicia faba / ». Thesis, McGill University, 1988. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=63936.

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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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Scheel, Christina. « Telomere lengthening mechanisms in matrix-producing bone tumors a molecular genetic and cytogenetic study / ». [S.l.] : [s.n.], 2003. http://deposit.ddb.de/cgi-bin/dokserv?idn=96864998X.

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Livres sur le sujet "Cytogenetic study"

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Barlow, Susan Angela. A cytogenetic study of human oocytes. Birmingham : University of Birmingham, 1998.

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Psycholinguistics : Psychology, linguistics, and the study of natural language. Amsterdam : J. Benjamins Pub. Co., 1992.

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Ross, Katherine Jane. A cytogenetical and molecular study of Meiosis in Arabidopsis thaliana. Birmingham : University of Birmingham, 1997.

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Harrison, Michele. Cytogenetic study of ductal carcinoma of the breast by in situ hybridisation interphase cytogenetics. 1996.

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Faul, Peter N. Interphase cytogenetics study on partial hydatidiform moles. 1993.

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Susman, Millard, et Eeva Therman. Human Chromosomes : Structure, Behavior, and Effects (Springer Study Edition). Springer, 1995.

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Chapitres de livres sur le sujet "Cytogenetic study"

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Grammatico, P., A. M. Cianciulli, I. Venturo, S. Campo, R. Perrone Donnorso et G. Del Porto. « Kaposi’s Sarcoma : A Cytogenetic Study ». Dans New Frontiers in Cytology, 50–52. Berlin, Heidelberg : Springer Berlin Heidelberg, 1988. http://dx.doi.org/10.1007/978-3-642-73596-7_9.

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Awa, A. A., T. Honda, S. Neriishi, T. Sufuni, H. Shimba, K. Ohtaki, M. Nakano, Y. Kodama, M. Itoh et H. B. Hamilton. « Cytogenetic Study of the Offspring of Atomic Bomb Survivors, Hiroshima and Nagasaki ». Dans Cytogenetics, 166–83. Berlin, Heidelberg : Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-72802-0_8.

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Schaison, G., G. Leverger, A. Bernheim, M. T. Daniel, G. Flandrin et R. Berger. « Cytogenetic Study of 130 Childhood Acute Nonlymphocytic Leukemias ». Dans Acute Leukemias II, 157–58. Berlin, Heidelberg : Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-74643-7_30.

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Campbell, Lynda J. « Evolution of Cytogenetic Methods in the Study of Cancer ». Dans Methods in Molecular Biology, 3–12. Totowa, NJ : Humana Press, 2011. http://dx.doi.org/10.1007/978-1-61779-074-4_2.

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Hirsch, Betsy. « Cytogenetic Investigations of DNA Damage in Aging : A Twin Study ». Dans DNA Damage and Repair in Human Tissues, 303–13. Boston, MA : Springer US, 1990. http://dx.doi.org/10.1007/978-1-4613-0637-5_24.

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Mikkelsen, M. « Cytogenetic Findings in First Trimester Chorionic Villi Biopsies : A Collaborative Study ». Dans First Trimester Fetal Diagnosis, 109–20. Berlin, Heidelberg : Springer Berlin Heidelberg, 1985. http://dx.doi.org/10.1007/978-3-642-70707-0_18.

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Fraccaro, M., S. Scappaticci et D. Cerimele. « A Population and Cytogenetic Study of the Werner Syndrome in Sardinia ». Dans Advances in Experimental Medicine and Biology, 547–52. Boston, MA : Springer US, 1985. http://dx.doi.org/10.1007/978-1-4684-7853-2_28.

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Werner, C. A., H. Döhner, T. F. E. Barth, S. Stilgenbauer, A. Plesch, P. Lichter et M. Bentz. « Molecular Cytogenetic Analysis of Low-Grade B-Cell Neoplasias : a Comparative Genomic Hybridization Study ». Dans Recent Results in Cancer Research, 53–60. Berlin, Heidelberg : Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-46836-0_7.

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Vorobtsova, Irina E., et Alexey Semenov. « Significance of Cytogenetic Study for Estimation of Biological Effects of Low-Dose Irradiation of People ». Dans Genetics, Evolution and Radiation, 397–404. Cham : Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-48838-7_33.

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Grammatico, P., A. Modesti, S. Scarpa, S. Campo, C. Dominici, G. D’Orazi, N. Sulli et G. Del Porto. « Cytogenetic, Molecular, Immunologic, and Ultrastructural Study on an Established Cell Line of a Stage III Neuroblastoma ». Dans New Frontiers in Cytology, 45–49. Berlin, Heidelberg : Springer Berlin Heidelberg, 1988. http://dx.doi.org/10.1007/978-3-642-73596-7_8.

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Actes de conférences sur le sujet "Cytogenetic study"

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Mitrenina, E. Yu, et A. S. Erst. « A cytogenetic approach to the study of Ranunculaceae ». Dans Problems of studying the vegetation cover of Siberia. TSU Press, 2020. http://dx.doi.org/10.17223/978-5-94621-927-3-2020-24.

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Plant chromosomes investigation has an about 140 years-old history. A cytogenetic approach keeps being relevant to the systematics and phylogeny problem solving, although the molecular genetic methods are widely used. The comparative karyotype analysis as a part of the integrative taxonomic approach is used successfully along with morphological, molecular genetic, phytochemical, and other methods to study plants of different taxonomic groups, including fam. Ranunculaceae Juss.
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Lucas, Joe N. « A Comparative Study of Proposed Human Cytogenetic Fingerprints for Radiation LET ». Dans UNATTENDED RADIATION SENSOR SYSTEMS FOR REMOTE APPLICATIONS. AIP, 2002. http://dx.doi.org/10.1063/1.1513970.

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Racoviță, Stela, Alina Patrașcu, Svetlana Capcelea, Anna Mishina, Tatiana Samoilenco et Mariana Sprincean. « Cytogenetic study in male infertility associated with azoospermia and severe oligosoospermia ». Dans XIth International Congress of Geneticists and Breeders from the Republic of Moldova. Scientific Association of Geneticists and Breeders of the Republic of Moldova, Institute of Genetics, Physiology and Plant Protection, Moldova State University, 2021. http://dx.doi.org/10.53040/cga11.2021.015.

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Romanov, Dmitry, Mikhail Divashuk, Ilya Kirov et Ludmila Khrustaleva. « Cytogenetic study of onion (Allium cepa L.) by physical mapping of ESTs ». Dans VII South-Eastern Europe Syposium on Vegetables & Potatoes. University of Maribor Press, 2017. http://dx.doi.org/10.18690/978-961-286-045-5.53.

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Rubtsov, N. V. « Lessons of studies of karyotypic and genomic evolution in animals, application of developed technique in the studies of karyotype and genome organization in plants ». Dans 2nd International Scientific Conference "Plants and Microbes : the Future of Biotechnology". PLAMIC2020 Organizing committee, 2020. http://dx.doi.org/10.28983/plamic2020.207.

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The present report is devoted to analysis of results obtained with modern molecular and molecular-cytogenetic methods in studies of karyotype and genome organization in various animal species. Perspectives of their application for the study of karyotype and genome organization in plants are considered and discussed.
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Mohammed, Sheeman, et Hazha Hedayat. « Cytogenetic study among chemical bombardment survivors in Shekh Wasan and Balisan valley Kurdistan Region-Iraq ». Dans 4th Scientific Conference of Hawler Medical University. Hawler Medical University, 2018. http://dx.doi.org/10.15218/hmu.04.11.

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« Cytogenetic study of the hybrids F1BC1 with interspecific chromosome substitution of species G. barbadense L. » Dans Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/plantgen2019-030.

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Foca-nici, Ecaterina, Gabriela Capraru, Dorina Creanga, Urs Häfeli, Wolfgang Schütt et Maciej Zborowski. « Comparative Cytogenetic Study on the Toxicity of Magnetite and Zinc Ferrite Nanoparticles in Sunflower Root Cells ». Dans 8TH INTERNATIONAL CONFERENCE ON THE SCIENTIFIC AND CLINICAL APPLICATIONS OF MAGNETIC CARRIERS. AIP, 2010. http://dx.doi.org/10.1063/1.3530036.

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Staynova, Albena, Dimka Georgieva, Ljubomira Popova et Rositsa Hristova. « Cytogenetic follow-up study for over 4 years of three individuals accidentally exposed to 60Co in Bulgaria ». Dans RAD Conference. RAD Centre, 2021. http://dx.doi.org/10.21175/rad.abstr.book.2021.32.7.

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Maruschak, A. V., A. M. Eliseykin et Alexandra Zaushintsena. « ASSESSMENT OF GENOME STABILITY IN WORKERS OF THE COAL-BORNE THERMAL POWER PLANTS OF KUZBASS WITH MICRONUCLEAR TEST IN BLOOD LYMPHOCYTES ». Dans I International Congress “The Latest Achievements of Medicine, Healthcare, and Health-Saving Technologies”. Kemerovo State University, 2023. http://dx.doi.org/10.21603/-i-ic-82.

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Objective: to study the cytotoxic effects in workers of coal-fired thermal power plants. The paper analyzes the cytogenetic and proliferative parameters of blood cells in 50 employees of thermal power plants and state district power plants and 50 non-working residents of the Kemerovo region. Data have been obtained on the cytotoxic compound of compounds present in the environment of industrial enterprises at the plant of working coal-fired thermal power plants.
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Rapports d'organisations sur le sujet "Cytogenetic study"

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Tel-Zur, Neomi, et Jeffrey J. Doyle. Role of Polyploidy in Vine Cacti Speciation and Crop Domestication. United States Department of Agriculture, janvier 2012. http://dx.doi.org/10.32747/2012.7697110.bard.

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1. Abstract: Over the past 25 years, vine cacti of the genera Hylocereus and Selenicereus have been introduced into Israel and southern California as new exotic fruit crops. The importance of these crops lies in their high water use efficiency and horticultural potential as exotic fruit crops. Our collaboration focused on the cytological, molecular and evolutionary aspects of vine cacti polyploidization to confront the agricultural challenge of genetic improvement, ultimately to improve success of vine cacti as commercial fruit crop plants. More specifically, we worked on the: 1- Identification of the putative ancestor(s) of the tetraploid H. megalanthus; 2- Determination of the number of origins of H. megalanthus (single vs. multiple origins of polyploidy); 3- Cytogenetic analysis of BC1 and F1 hybrids; 4- Determination of important agricultural traits and the selection of superior hybrids for cultivation. The plant material used in this study comprised interspecific Hylocereus F1 and first backcross (BC1) hybrids, nine Hylocereus species (58 genotypes), nine Selenicereus species (14 genotypes), and four Epiphyllum genotypes. Two BC1 hexaploids (BC-023 and BC-031) were obtained, a high ploidy level that can be explained only by a fertilization event between one unreduced female gamete from the triploid hybrid and a balanced gamete from the pollen donor, the diploid H. monacanthus. These findings are scientific evidence that support the possibility that “hybridization followed by chromosome doubling” could also occur in nature. Cytomixis, the migration of chromatin between adjacent cells through connecting cytoplasmatic channels, was observed in vine cacti hybrids and may thus imply selective DNA elimination in response to the allopolyploidization process. Evidence from plastid and nrDNA internal transcribed spacers (ITS) sequences support the placement of H. megalanthus within a monophyletic Hylocereus group. Furthermore, both plastid and ITS datasets are most consistent with a conclusion that this tetraploid species is an autopolyploid, despite observations that the species appears to be morphologically intermediate between Hylocereus and Selenicereus. Although the possibility of very narrow allopolyploidly (i.e., derivation from parents that are barely diverged from each other such as closely related species in the same genus) cannot be ruled out entirely based on our data (in part due to the unavailability of Hylocereus species considered to be morphologically the closest relatives of H. megalanthus), the possibility of H. megalanthus representing an intergeneric cross (i.e., Hylocereus × Selenicereus) seems extremely unlikely. Interestingly, the process of homogenization of ITS sequences (concerted evolution) is either incomplete or lacking in both Hylocereus and Selenicereus, and the inclusion of several artificial hybrids in the molecular study revealed the potential for biparental plastid inheritance in Hylocereus. The most important agricultural implication of this research project was the information collected for F1 and BC1 hybrids. Specifically, this project concluded with the selection of four superior hybrids in terms of fruit quality and potential yields under extreme high temperatures. These selected hybrids are self-compatible, avoiding the need for hand cross pollination to set fruits, thus reducing manpower costs. We recently offered these hybrids to growers in Israel for prioritized rapid evaluation and characterization.
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