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Journal articles on the topic 'Cytogenetics'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Vance, Gail H., Haesook Kim, Gary Hicks, et al. "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 (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

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2

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 (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 <1

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3

Koenecke, Christian, Gudrun Göhring, Liesbeth de Wreede, 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 (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 predi

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Kim, Sung-Yong, Jong-Wook Lee, Byung-Sik Cho, et al. "Clinical Implications of Abnormal Cytogenetics at Diagnosis of Aplastic Anemia." Blood 108, no. 11 (2006): 986. http://dx.doi.org/10.1182/blood.v108.11.986.986.

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Abstract Because cytogenetic abnormalities of aplastic anemia at diagnosis have been reported fairly infrequently, their clinical implications have not known yet. A retrospective study was performed of the cytogenetics findings and clinical courses in patients with typical morphological and clinical features of aplastic anemia from a single institution for the years 1995 through 2005. The results of chromosome analysis of 610 patients were evaluable. Of the evaluable patients, 584 (95.7 %) had normal karyotypes and 26 (4.3 %) had abnormal karyotypes at diagnosis. The most frequent abnormality

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5

Kim, Sung-Yong, Myungshin Kim, Kyungja Han, et al. "Characteristics and Clinical Outcomes of Adult Aplastic Anemia with Abnormal Cytogenetics at Diagnosis." Blood 112, no. 11 (2008): 2039. http://dx.doi.org/10.1182/blood.v112.11.2039.2039.

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Abstract Background and methods Occasionally, patients with acquired aplastic anemia (AA) present with abnormal cytogenetics in bone marrow cells at diagnosis. The diagnosis and treatment of such patients have not been established and have been center-dependent. We have treated adult AA patients with abnormal cytogenetics in a same way as those with normal cytogenetics. Presently, the characteristics and clinical outcomes of 600 adult AA patients who had successful cytogenetics at diagnosis were retrospectively evaluated. Our aim was to determine the characteristics and clinical courses of AA

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Larson, Melissa L., Ann M. Thomas, Nitin Goyal, et al. "Efficacy of a Two Day Induction Regimen for De Novo and Secondary AML with Intermediate and Adverse Cytogenetic Profiles." Blood 112, no. 11 (2008): 4027. http://dx.doi.org/10.1182/blood.v112.11.4027.4027.

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Abstract Background: Cytogenetic data remains one of the most powerful prognostic factors for predicting response and survival in adult AML patients. The relationship between cytogenetics and induction response to the standard “7+3” regimen has been analyzed in the past. In a CALGB study, patients with favorable cytogenetics achieved a complete remission (CR) rate of 88%, those with intermediate cytogenetics achieved a 67% CR rate and those with adverse cytogenetics had a 32% CR rate (Byrd et al. Blood100: 4325, 2002). We present a retrospective analysis of the correlation between the hierarch

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Zhang, Peng, Bernd Friebe, Bikram Gill, and R. F. Park. "Cytogenetics in the age of molecular genetics." Australian Journal of Agricultural Research 58, no. 6 (2007): 498. http://dx.doi.org/10.1071/ar07054.

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From the beginning of the 20th Century, we have seen tremendous advances in knowledge and understanding in almost all biological disciplines, including genetics, molecular biology, structural and functional genomics, and biochemistry. Among these advances, cytogenetics has played an important role. This paper details some of the important milestones of modern cytogenetics. Included are the historical role of cytogenetics in genetic studies in general and the genetics stocks produced using cytogenetic techniques. The basic biological questions cytogenetics can address and the important role and

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8

Armand, Philippe, Haesook T. Kim, Daniel J. DeAngelo, et al. "Impact of Cytogenetics and Prior Therapy on Outcome of AML and MDS after Allogeneic Transplantation." Blood 108, no. 11 (2006): 259. http://dx.doi.org/10.1182/blood.v108.11.259.259.

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Abstract Cytogenetics is an important determinant of outcome for patients with AML or MDS. However, the prognostic impact of cytogenetics in patients undergoing allogeneic stem cell transplantation (alloSCT) is less clear. Moreover, the existing cytogenetic risk groups were established on cohorts of patients treated mostly with chemotherapy, and thus may not be optimal for patients undergoing alloSCT. We retrospectively studied 556 consecutive patients with AML or MDS who received an alloSCT at our institution. Using Cox proportional hazards modeling, taking into account cytogenetics and other

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9

Rashidi, Armin, and Amanda F. Cashen. "A Cytogenetic Model Predicts Relapse Risk and Survival in Patients with Acute Myeloid Leukemia Undergoing Hematopoietic Stem Cell Transplantation in Morphologic Complete Remission." Blood 124, no. 21 (2014): 2545. http://dx.doi.org/10.1182/blood.v124.21.2545.2545.

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Abstract Objectives: Up to one third of patients with acute myeloid leukemia (AML) and abnormal cytogenetics have persistent cytogenetic abnormalities (pCytAbnl) at morphologic complete remission (mCR). We hypothesized that the prognostic significance of pCytAbnl in patients undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT) in mCR varies with the cytogenetic risk group. Previous studies on the subject have been small, inconclusive, or inconsistent. Methods: We analyzed the data from a large cohort of patients (n = 118) with AML and abnormal cytogenetics who underwent al

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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 (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

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11

Mellors, Patrick, Moritz Binder, Rhett P. Ketterling, et al. "Metaphase Cytogenetics for Risk Stratification in Newly Diagnosed Multiple Myeloma." Blood 134, Supplement_1 (2019): 4396. http://dx.doi.org/10.1182/blood-2019-122291.

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Introduction: Abnormal metaphase cytogenetics are associated with inferior survival in newly diagnosed multiple myeloma (MM). These abnormalities are only detected in one third of cases due to the low proliferative rate of plasma cells. It is unknown if metaphase cytogenetics improve risk stratification when using contemporary prognostic models such as the revised international staging system (R-ISS), which incorporates interphase fluorescence in situ hybridization (FISH). Aims: The aims of this study were to 1) characterize the association between abnormalities on metaphase cytogenetics and o

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12

Malig, Maika, Olga Sala-Torra, Mary Wood, et al. "Genomic Proximity Mapping (GPM): Evaluation of a Next Generation Cytogenomic Assay for Improved Risk Stratification in Acute Myeloid Leukemia." Blood 144, Supplement 1 (2024): 6157. https://doi.org/10.1182/blood-2024-211570.

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Cytogenetics encompasses a suite of diagnostics assays that provides critical diagnostic and prognostic information that can help guide care for acute myeloid leukemias (AML) patients. Routine cytogenetic workup for AML includes karyotyping and fluorescence in situ hybridization (FISH) for known recurrent variants. The workup can be extended to include chromosome genome array testing (CGAT) but because all 3 of these tests have a non-overlapping set of limitations that can necessitate multiple, often iterative, rounds of testing in complex cases and may miss information in cases with cryptic f

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13

Sachs, Zohar, Michelle Dollan, Todd E. De For, et al. "Are IPSS-R and IPSS Cytogenetic Risk Stratification Informative At the Time of Allogeneic Hematopoietic Cell Transplantation?" Blood 120, no. 21 (2012): 1400. http://dx.doi.org/10.1182/blood.v120.21.1400.1400.

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Abstract Abstract 1400 Myelodysplastic syndromes (MDS) are a heterogeneous group of hematopoietic stem cell disorders. Cytogenetic aberrations are one of the main elements of risk stratification among published scoring systems including the International Prognostic Scoring System (IPSS) or its recent revision (R-IPSS). R-IPSS cytogenetic risk stratification has 5 cytogenetic subgroups rather than 3 in the IPSS. We hypothesized that R-IPSS and/or IPSS cytogenetic risk stratification at the time of allogeneic hematopoietic cell transplantation (alloHCT) can better predict outcome afterwards. In

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Mathew, Mariam T., Melanie Babcock, Ying-Chen Claire Hou, et al. "Clinical Cytogenetics: Current Practices and Beyond." Journal of Applied Laboratory Medicine 9, no. 1 (2024): 61–75. http://dx.doi.org/10.1093/jalm/jfad086.

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Abstract Background Throughout history, the field of cytogenetics has witnessed significant changes due to the constant evolution of technologies used to assess chromosome number and structure. Similar to the evolution of single nucleotide variant detection from Sanger sequencing to next-generation sequencing, the identification of chromosome alterations has progressed from banding to fluorescence in situ hybridization (FISH) to chromosomal microarrays. More recently, emerging technologies such as optical genome mapping and genome sequencing have made noteworthy contributions to clinical labor

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15

Sproat, Lisa O., Brian Bolwell, Lisa Rybicki, et al. "No Impact of Postremission Consolidation Chemotherapy Before Allogeneic Transplant in Patients with First Remission Acute Myeloid Leukemia with Intermediate or High Risk Cytogenetics." Blood 112, no. 11 (2008): 2164. http://dx.doi.org/10.1182/blood.v112.11.2164.2164.

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Abstract Despite a lack of evidence that postremission consolidation chemotherapy improves outcome of allogeneic transplantation in patients with acute myeloid leukemia (AML) in first remission, high dose cytarabine and other regimens are commonly administered to these patients. We studied a consecutive cohort of 73 adult patients with AML at high risk of relapse by published criteria who underwent allogeneic transplantation in first remision to determine whether specific patient and treatment characteristics identified subgroups of patients who might benefit from consolidation therapy prior t

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16

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 (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 physica

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17

Haase, Detlef, Ulrich Germing, Julie Schanz, et al. "Evidence for an Underestimation of the Prognostic Impact of Poor Cytogenetics within the IPSS." Blood 108, no. 11 (2006): 252. http://dx.doi.org/10.1182/blood.v108.11.252.252.

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Abstract In the IPSS the variables bone marrow blasts, cytogenetics and cytopenias were found to be most relevant for clinical outcome by multivariate analysis. Comparing cytogenetics and blasts scoring points were assigned as follows: 0 (good cytogenetics and less than 5% blasts), 0.5 points (intermediate cytogenetics, and 5–10% blasts), 1.0 points (poor cytogenetics), 1.5 points (11–20% blasts), 2.0 (21–30% blasts). In order to examine the correctness of weighting of cytogenetics in comparison to blast counts we compared the survival curves, median survival times (mst) and differences of mst

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18

JACKSON, LAIRD. "Cytogenetics and Molecular Cytogenetics." Clinical Obstetrics and Gynecology 45, no. 3 (2002): 622–39. http://dx.doi.org/10.1097/00003081-200209000-00006.

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19

Klein, Kim, Martin Zimmermann, Berna Beverloo, 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 (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 ce

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Nishio, Jun. "Contributions of Cytogenetics and Molecular Cytogenetics to the Diagnosis of Adipocytic Tumors." Journal of Biomedicine and Biotechnology 2011 (2011): 1–9. http://dx.doi.org/10.1155/2011/524067.

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Over the last 20 years, a number of tumor-specific chromosomal translocations and associated fusion genes have been identified for mesenchymal neoplasms including adipocytic tumors. The addition of molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH), has further enhanced the sensitivity and accuracy of detecting nonrandom chromosomal translocations and/or other rearrangements in adipocytic tumors. Indeed, most resent molecular cytogenetic analysis has demonstrated a translocation t(11;16)(q13;p13) that produces aC11orf95-MKL2fusion gene in chondroid lipoma. A

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Kalaycio, Matt, Mikkael Sekeres, Ronald Sobecks, et al. "Cytogenetic Classification Systems and Overall Survival Following Bone Marrow Transplant (BMT) for Acute Myelogenous Leukemia (AML)." Blood 106, no. 11 (2005): 4500. http://dx.doi.org/10.1182/blood.v106.11.4500.4500.

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Abstract Risk-adapted therapy for AML in first complete remission generally calls for allogeneic BMT for patients with poor risk cytogenetics. However, poor risk cytogenetics is defined differently in commonly-applied classification schemes. We hypothesized that differences in cytogenetic classification might result in differences in survival after BMT. From September 1991 to December 2003, we treated 47 patients with AML in first complete remission with high-dose busulfan-containing preparative regimens and an HLA-matched sibling BMT. The median age was 42 years (range 18 to 60). At the time

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Branco, Carolina, Manuel Silva, Natacha Rodrigues, Joana Vieira, João Forjaz Lacerda, and José António Lopes. "The Role of High-Risk Cytogenetics in Acute Kidney Injury of Newly Diagnosed Multiple Myeloma: A Cohort Study." International Journal of Molecular Sciences 26, no. 13 (2025): 6108. https://doi.org/10.3390/ijms26136108.

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Multiple myeloma (MM) is frequently associated with cytogenetic abnormalities, with high-risk cytogenetics linked to poorer survival. Acute kidney injury (AKI) is common in MM, but its relationship with high-risk cytogenetics remains underexplored. This study aimed to assess the association between high-risk cytogenetics and AKI in newly diagnosed MM patients and to evaluate their impact on overall survival, relapse-free survival, and progression to chronic kidney disease (CKD) in the first two years after diagnosis. We conducted a single-center retrospective cohort study including patients ne

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Paner, Gladell P., Valerie Lindgren, Kris Jacobson, et al. "High Incidence of Chromosome 1 Abnormalities in a Series of 27 Renal Oncocytomas: Cytogenetic and Fluorescence In Situ Hybridization Studies." Archives of Pathology & Laboratory Medicine 131, no. 1 (2007): 81–85. http://dx.doi.org/10.5858/2007-131-81-hiocai.

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Abstract Context.—It has recently been shown by cytogenetics that there is a high incidence of chromosome 1 abnormalities in renal oncocytomas. Objective.—To confirm the cytogenetic results by fluorescence in situ hybridization (FISH) analysis. Design.—Nine additional cytogenetic analyses were added to those reported in our recent study, with a total of 27 tumors studied, which makes it the largest series of renal oncocytomas studied to date by cytogenetics and/or FISH. We used the LSI 1p36/LSI 1q25 Dual Color Probe Set to make the analyses. Results.—In this study, combined cytogenetics and FI

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Meggendorfer, Manja, Tamara Alpermann, Karolina Perglerová, et al. "Genetic Patterns of Relapsed AML Differ Significantly from First Manifestation and Are Dependent on Cytogenetic Risk Groups at Diagnosis: Results in 175 Patients with Paired Samples." Blood 124, no. 21 (2014): 1029. http://dx.doi.org/10.1182/blood.v124.21.1029.1029.

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Abstract Introduction: Genetic changes between diagnosis and relapse in AML have not been analyzed comprehensively yet. Especially in the favorable risk group (acute promyelocytic leukemia (APL) with PML-RARA, and core binding factor (CBF) leukemias with CBFB-MYH11 or RUNX1-RUNX1T1) data is scarce. Aim: To investigate genetic patterns in AML with favorable risk cytogenetics at diagnosis and at relapse in comparison to all other AML subtypes. Patients and Methods: We investigated 175 AML patients diagnosed by cytomorphology, immunophenotyping and cytogenetics following WHO criteria both at diag

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Gangat, Naseema, Jacob J. Strand, Terra L. Lasho, et al. "Cytogenetic Studies at Diagnosis in Polycythemia Vera: Clinical and JAK2V617F Allele Burden Correlates." Blood 110, no. 11 (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

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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 (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 an

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Li, Marilyn, and Daniel Pinkel. "Clinical cytogenetics and molecular cytogenetics." Journal of Zhejiang University SCIENCE B 7, no. 2 (2006): 162–63. http://dx.doi.org/10.1631/jzus.2006.b0162.

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Dingli, David, Schwager M. Schwager, Mesa A. Ruben, Chin Yang Li, and Ayalew Tefferi. "Presence of Unfavorable Cytogenetic Abnormalities Is the Strongest Predictor of Poor Survival in Secondary Myelofibrosis." Blood 106, no. 11 (2005): 2585. http://dx.doi.org/10.1182/blood.v106.11.2585.2585.

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Abstract Post-polycythemic (PPMM) and post-thrombocythemic (PTMM) myeloid metaplasia are consensually referred to as secondary myelofibrosis (sMF). Prognostic variables in sMF are not as well defined as they are for agnogenic myeloid metaplasia (AMM). Such information is particularly crucial for management decisions in transplant-eligible patients. Accordingly, we examined the prognostic impact of several clinical and laboratory variables in 66 young patients (age &lt; 60 years) with sMF including 37 with PPMM and 29 with PTMM. Multivariate analysis of parameters other than cytogenetics id

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Walter, Claudia Ulrike, Mouhab Ayas, Amal Alseraihy, et al. "Cytogenetic Risk Remains a Major Predictor of Outcome in Pediatric AML and ALL Treated with Allogeneic Stem Cell Transplantation,." Blood 118, no. 21 (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

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Tamkus, Deimante, Ahmad Jajeh, Ebenezer Berko, et al. "Adult Acute Lymphoblastic Leukemia and Cytogenetic Abnormalities in Different Racial and Ethnic Subgroups." Blood 106, no. 11 (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 f

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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 (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

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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 (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

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Laughlin, M. J., D. S. McGaughey, J. R. Crews, et al. "Secondary myelodysplasia and acute leukemia in breast cancer patients after autologous bone marrow transplant." Journal of Clinical Oncology 16, no. 3 (1998): 1008–12. http://dx.doi.org/10.1200/jco.1998.16.3.1008.

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PURPOSE To determine the incidence of myelodysplasia (MDS) and/or acute leukemia (AL) in breast cancer patients after high-dose chemotherapy (HDC) with a single conditioning regimen and autologous bone marrow transplant (ABMT), and analyze the cytogenetic abnormalities that arise after HDC. PATIENTS AND METHODS We retrospectively reviewed the records of 864 breast cancer patients who underwent ABMT at Duke University Medical Center, Durham, NC, from 1985 through 1996 who received the same preparative regimen of cyclophosphamide 1,875 mg/m2 for 3 days, cisplatin 55 mg/m2 for 3 days, and BCNU 60

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Schanz, Julie, Christian Steidl, Christa Fonatsch, et al. "Coalesced Multicentric Analysis of 2,351 Patients With Myelodysplastic Syndromes Indicates an Underestimation of Poor-Risk Cytogenetics of Myelodysplastic Syndromes in the International Prognostic Scoring System." Journal of Clinical Oncology 29, no. 15 (2011): 1963–70. http://dx.doi.org/10.1200/jco.2010.28.3978.

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Purpose The International Prognostic Scoring System (IPSS) remains the most commonly used system for risk classification in myelodysplastic syndromes (MDSs). The IPSS gives more weight to blast count than to cytogenetics. However, previous publications suggested that cytogenetics are underweighted in the IPSS. Here we investigate the prognostic impact of cytogenetic subgroups compared with that of bone marrow blast count in a large, multicentric, international patient cohort. Patients and Methods In total, 2,351 patients with MDS who have records in the German-Austrian and the MD Anderson Canc

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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 (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

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Liehr, T., V. Trifonov, A. Polityko, et al. "Characterization of Small Supernumerary Marker Chromosomes By A Simple Molecular and Molecular Cytogenetics Approach." Balkan Journal of Medical Genetics 10, no. 1 (2007): 33–37. http://dx.doi.org/10.2478/v10034-007-0006-5.

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Characterization of Small Supernumerary Marker Chromosomes By A Simple Molecular and Molecular Cytogenetics ApproachSmall supernumerary marker chromosomes (sSMC) are still a major problem especially in prenatal cytogenetic diagnostics and counseling. These structurally abnormal chromosomes cannot be identified or characterized unambiguously by conventional banding cytogenetics alone, and are generally about the size of or smaller than a chromosome 20 in the same metaphase spread. We describe a straightforward algorithm, based on data from 2,211 reported cases (http://www.markerchromosomes.ag.v

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Avet-Loiseau, Herve, Cyrille Hulin, Lofti Benboubker, et al. "Impact of Cytogenetics on Outcomes of Transplant-Ineligible Patients with Newly Diagnosed Multiple Myeloma Treated with Continuous Lenalidomide Plus Low-Dose Dexamethasone in the First (MM-020) Trial." Blood 126, no. 23 (2015): 730. http://dx.doi.org/10.1182/blood.v126.23.730.730.

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Abstract Introduction: Cytogenetic abnormalities in patients (pts) with multiple myeloma (MM) are of prognostic importance and can be associated with poor outcomes (Bergsagel, Blood, 2011). The FIRST trial is a pivotal phase 3 study with the largest data set in transplant-ineligible pts with newly diagnosed MM (NDMM). This subanalysis evaluates the impact of cytogenetics on outcomes in transplant-ineligible pts with NDMM continuously treated with lenalidomide plus low-dose dexamethasone until disease progression (Rd continuous). Methods: Transplant-ineligible pts with NDMM were randomized to 1

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Marcucci, Guido, Krzysztof Mrózek, Amy S. Ruppert, et al. "Abnormal Cytogenetics at Date of Morphologic Complete Remission Predicts Short Overall and Disease-Free Survival, and Higher Relapse Rate in Adult Acute Myeloid Leukemia: Results From Cancer and Leukemia Group B Study 8461." Journal of Clinical Oncology 22, no. 12 (2004): 2410–18. http://dx.doi.org/10.1200/jco.2004.03.023.

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Purpose As most patients with acute myeloid leukemia (AML) with morphologic complete remission (CR) ultimately relapse, better predictors for outcome are needed. Recently, Cheson et al suggested using cytogenetic remission (CRc) as part of the criteria for CR. To our knowledge, ours is the first relatively large study evaluating the usefulness of CRc attained immediately following induction chemotherapy. Patients and Methods We included AML patients treated on Cancer and Leukemia Group B front-line studies with cytogenetic samples obtained at diagnosis and at the first day of documented CR fol

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Heng, JL, YC Chen, TC Quah, TC Liu, and AEJ Yeoh. "Dedicated Cytogenetics Factor is Critical for Improving Karyotyping Results for Childhood Leukaemias – Experience in the National University Hospital, Singapore 1989-2006." Annals of the Academy of Medicine, Singapore 39, no. 2 (2010): 102–6. http://dx.doi.org/10.47102/annals-acadmedsg.v39n2p102.

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Introduction: Childhood leukaemia accounts for more than 40% of new childhood cancer cases. Karyotyping of cytogenetic abnormalities in such cases continues to provide critical prognostic information which allows the delivery of an appropriate intensity of treatment. Unfortunately, karyotyping of childhood leukaemia is difficult, laborious and often unsuccessful. Banding resolution tends to be poor unlike routine antenatal cytogenetics. The aim of the study is to highlight the benefit of dedicated cytogenetics in improving karyotyping results. Materials and Methods: We analysed the impact of s

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Bhowmick, Biplab Kumar, and Sumita Jha. "A critical review on cytogenetics of Cucurbitaceae with updates on Indian taxa." Comparative Cytogenetics 16, no. 2 (2022): 93–125. http://dx.doi.org/10.3897/compcytogen.v16.i2.79033.

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The cytogenetic relationships in the species of Cucurbitaceae are becoming immensely important to answer questions pertaining to genome evolution. Here, a simplified and updated data resource on cytogenetics of Cucurbitaceae is presented on the basis of foundational parameters (basic, zygotic and gametic chromosome numbers, ploidy, genome size, karyotype) and molecular cytogenetics. We have revised and collated our own findings on seven agriculturally important Indian cucurbit species in a comparative account with the globally published reports. Chromosome count (of around 19% species) shows n

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Bhowmick, Biplab Kumar, and Sumita Jha. "A critical review on cytogenetics of Cucurbitaceae with updates on Indian taxa." Comparative Cytogenetics 16, no. 2 (2022): 93–125. http://dx.doi.org/10.3897/compcytogen.v16.i2.79033.

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The cytogenetic relationships in the species of Cucurbitaceae are becoming immensely important to answer questions pertaining to genome evolution. Here, a simplified and updated data resource on cytogenetics of Cucurbitaceae is presented on the basis of foundational parameters (basic, zygotic and gametic chromosome numbers, ploidy, genome size, karyotype) and molecular cytogenetics. We have revised and collated our own findings on seven agriculturally important Indian cucurbit species in a comparative account with the globally published reports. Chromosome count (of around 19% species) shows n

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Bhowmick, Biplab Kumar, and Sumita Jha. "A critical review on cytogenetics of Cucurbitaceae with updates on Indian taxa." Comparative Cytogenetics 16, no. (2) (2022): 93–125. https://doi.org/10.3897/compcytogen.v16.i2.79033.

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The cytogenetic relationships in the species of Cucurbitaceae are becoming immensely important to answer questions pertaining to genome evolution. Here, a simplified and updated data resource on cytogenetics of Cucurbitaceae is presented on the basis of foundational parameters (basic, zygotic and gametic chromosome numbers, ploidy, genome size, karyotype) and molecular cytogenetics. We have revised and collated our own findings on seven agriculturally important Indian cucurbit species in a comparative account with the globally published reports. Chromosome count (of around 19% species) shows n

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Barz Leahy, Allison, Kaitlin J. Stanley, Regina M. Myers, et al. "Cytogenetic Characteristics and Outcomes of Patients Receiving CTL019 CAR T Cell Therapy." Blood 134, Supplement_1 (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 pati

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Tallman, Martin, Gordon Dewald, Hillard Lazarus, et al. "Impact of Cytogenetics on Outcome of Mismatched Unrelated Donor Hematopoietic Stem Cell Transplantation for Adults with AML." Blood 104, no. 11 (2004): 830. http://dx.doi.org/10.1182/blood.v104.11.830.830.

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Abstract Matched unrelated donor hematopoietic stem cell transplantation (MUD HSCT) is a potentially curative treatment for patients with acute myeloid leukemia (AML). The graft-versus-leukemia (GVL) effect may be potent enough to overcome the otherwise poor prognosis associated with AML though its efficacy for high risk cytogenetic subgroups is uncertain. To test this hypothesis, we analyzed outcomes by cytogenetic risk group in 324 patients in first complete remission (CR1), and 440 in CR2 undergoing NMDP-facilitated MUD HSCT between 1988–2002. Using the SWOG/ECOG classification of cytogenet

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Roa, Fernando, and Mariana Pires de Campos Telles. "The Cerrado (Brazil) plant cytogenetics database." Comparative Cytogenetics 11, no. 2 (2017): 285–97. http://dx.doi.org/10.3897/compcytogen.11(2).11395.

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Cerrado is a biodiversity hotspot that has lost ca. 50% of its original vegetation cover and hosts ca. 11,000 species belonging to 1,423 genera of phanerogams. For a fraction of those species some cytogenetic characteristics like chromosome numbers and C-value were available in databases, while other valuable information such as karyotype formula and banding patterns are missing. In order to integrate and share all cytogenetic information published for Cerrado species, including frequency of cytogenetic attributes and scientometrics aspects, Cerrado plant species were searched in bibliographic

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Roa, Fernando, and Mariana Pires de Campos Telles. "The Cerrado (Brazil) plant cytogenetics database." Comparative Cytogenetics 11, no. (2) (2017): 285–97. https://doi.org/10.3897/CompCytogen.v11i2.11395.

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Cerrado is a biodiversity hotspot that has lost ca. 50% of its original vegetation cover and hosts ca. 11,000 species belonging to 1,423 genera of phanerogams. For a fraction of those species some cytogenetic characteristics like chromosome numbers and C-value were available in databases, while other valuable information such as karyotype formula and banding patterns are missing. In order to integrate and share all cytogenetic information published for Cerrado species, including frequency of cytogenetic attributes and scientometrics aspects, Cerrado plant species were searched in bibliographic

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Palumbo, Elisa, and Antonella Russo. "Chromosome Imbalances in Cancer: Molecular Cytogenetics Meets Genomics." Cytogenetic and Genome Research 150, no. 3-4 (2016): 176–84. http://dx.doi.org/10.1159/000455804.

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Genomic instability is a hallmark of cancer, and it is well-known that in several cancers the karyotype is unstable and rapidly evolving. Molecular cytogenetics has contributed to the description and interpretation of cancer karyotypes, in particular through multicolor FISH approaches which can define even complex chromosome rearrangements. The introduction of genome-wide methods has made available a powerful set of tools with higher resolution than cytogenetics, thus appropriate to comprehend the huge variability of cancer cells. This review focuses on novel findings deriving from the combina

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Slovak, Marilyn L., Kenneth J. Kopecky, Peter A. Cassileth, 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 (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) am

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Slovak, Marilyn L., Kenneth J. Kopecky, Peter A. Cassileth, 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 (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 gro

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&NA;. "Cytogenetics." Journal of Pediatric Hematology/Oncology 25, no. 4 (2003): S14—S15. http://dx.doi.org/10.1097/00043426-200304000-00032.

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