Cytogenetic Heterogeneity in Chronic Lymphocytic Leukemia.

Pina J Trivedi, Dharmesh M Patel, Mahnaz Kazi, Priya Varma
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Abstract

Objectives: Chronic lymphocytic leukemia (CLL) is a malignancy identified by an increase in the number of lymphocytes in the blood. It is one of the most common adult leukemias. It is a heterogeneous clinical disease with changeable progression. Chromosomal aberrations play a significant role in predicting clinical outcomes and survival. Treatment strategies for each patient are determined by chromosomal abnormalities. Cytogenetic methods are sensitive procedures for detecting abnormalities in the genome. The aim of this study was to document the incidence of different genes and gene rearrangements in CLL patients by comparing conventional cytogenetic and fluorescence in situ hybridization (FISH) results and predicting their prognosis. Materials and Methods A total of 23 CLL patients, 18 men and five women with ages ranging from 45-75 years were enrolled in this case series. Interphase fluorescent in situ hybridization (I-FISH) was conducted on peripheral blood or bone marrow samples, whichever were available, and were cultured in growth culture medium. I-FISH was used to detect chromosomal abnormalities such as 11q-, del13q14, 17p-, 6q- and trisomy 12 in CLL patients. Results FISH results showed that there were different chromosomal gene rearrangements including del13q, del17p, del6q, del11q, and trisomy 12. Recurrent chromosomal abnormalities involved trisomy 12, del17p, del13q and novel translocation (8;17) were only seen in one patient. Conclusion Genomic aberrations in CLL are important independent predictors of disease progression and survival. Interphase cytogenetic analysis using FISH revealed chromosomal changes in the majority of CLL samples and is superior to standard karyotype analysis for identifying cytogenetic abnormalities.

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慢性淋巴细胞白血病的细胞遗传学异质性。
目的:慢性淋巴细胞白血病(CLL)是一种以血液中淋巴细胞数量增加为特征的恶性肿瘤。它是最常见的成人白血病之一。它是一种多变性临床疾病。染色体畸变在预测临床结果和生存中起着重要作用。每个病人的治疗策略是由染色体异常决定的。细胞遗传学方法是检测基因组异常的灵敏方法。本研究的目的是通过比较常规细胞遗传学和荧光原位杂交(FISH)结果来记录CLL患者中不同基因和基因重排的发生率,并预测其预后。材料与方法本病例系列共纳入23例CLL患者,其中男性18例,女性5例,年龄45-75岁。对外周血或骨髓样本(视情况而定)进行间期荧光原位杂交(I-FISH),并在生长培养基中培养。I-FISH用于检测CLL患者的11q-、del13q14、17p-、6q-和12三体等染色体异常。结果FISH结果显示存在不同的染色体基因重排,包括del13q、del17p、del6q、del11q和12三体。复发性染色体异常涉及12三体、del17p、del13q和新的易位(8;17),仅见于1例患者。结论基因组畸变是CLL疾病进展和生存的重要独立预测因子。使用FISH的间期细胞遗传学分析揭示了大多数CLL样本的染色体变化,并且在识别细胞遗传学异常方面优于标准核型分析。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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