赵 丽, 金梦迪, 李 婷, 李 娟, 杨 柳, 朱 江, 蒲育栋, 王子妍. 应用FISH技术检测慢性淋巴细胞白血病ATM 和RB1基因缺失*[J]. 中国肿瘤临床, 2010, 37(8): 440-443. DOI: 10.3969/j.issn.1000-8179.2010.08.006
引用本文: 赵 丽, 金梦迪, 李 婷, 李 娟, 杨 柳, 朱 江, 蒲育栋, 王子妍. 应用FISH技术检测慢性淋巴细胞白血病ATM 和RB1基因缺失*[J]. 中国肿瘤临床, 2010, 37(8): 440-443. DOI: 10.3969/j.issn.1000-8179.2010.08.006
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ZHAO Li, JIN Mengdi, LI Ting, LI Juan, YANG Liu, ZHU Jiang, PU Yudong, WANG Ziyan. Detection of ATM and RB1 Deletion in Chronic Lymphocytic Leukemia by Fluorescence In Situ Hybridization[J]. CHINESE JOURNAL OF CLINICAL ONCOLOGY, 2010, 37(8): 440-443. DOI: 10.3969/j.issn.1000-8179.2010.08.006
Citation: ZHAO Li, JIN Mengdi, LI Ting, LI Juan, YANG Liu, ZHU Jiang, PU Yudong, WANG Ziyan. Detection of ATM and RB1 Deletion in Chronic Lymphocytic Leukemia by Fluorescence In Situ Hybridization[J]. CHINESE JOURNAL OF CLINICAL ONCOLOGY, 2010, 37(8): 440-443. DOI: 10.3969/j.issn.1000-8179.2010.08.006
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应用FISH技术检测慢性淋巴细胞白血病ATM 和RB1基因缺失*

Detection of ATM and RB1 Deletion in Chronic Lymphocytic Leukemia by Fluorescence In Situ Hybridization

    摘要
  • 摘要: 目的：探讨慢性淋巴细胞白血病（CLL）中11q22.3（ATM基因）和13q14（RB1 基因）的缺失情况以及荧光原位杂交（fluorescence in situ hybridization，FISH）技术检测慢性淋巴细胞白血病（CLL）染色体异常的价值，了解CLL 的分子遗传学特性。方法：分别用ATM和RB1 探针，运用荧光原位杂交（FISH）技术对10例CLL 确诊患者的11q22.3 和13q14染色体进行检测，并和常规细胞遗传学（Conventional cytogenetics，CC）检测方法，即G 显带法进行比较。结果：10例CLL 患者常规细胞遗传学检出2 例，其中t（5，9），t（10，12）和+ 12各1 例；而FISH方法检出7 例至少有一种分子遗传学异常，del（11q22.3）4 例，纯合缺失2 例，del（13q14）7例，纯合缺失2 例。10例患者中4 例同时有del（11q22.3）和del（13q14）这2 种染色体异常。结论：FISH是一种在分析CLL 染色体异常方面较为快速、准确和敏感的有效技术，可提高染色体异常检出率，为CLL 提供较为准确的分子细胞遗传学信息，指导临床与预后分析。

     

    Abstract: Objective: To investigate the incidence of 11q22.3 (ATM) and 13q14 (RB 1) deletion［del (11q22.3), del (13q14)］in chronic lymphocytic leukemia (CLL) and to explore the characteristics of molecular cytogenetics of chronic lym-phocytic leukemia (CLL).Methods:Probes ATM and RB1, and fluorescence in situ hybridization (FISH) were applied to de-tect the del ( 11q22.3) and del ( 13q14) in 10CLL cases. The results were compared with those of conventional cytogenetic (CC) G banding. Results: In the 10cases of CLL, 2 cases were found with abnormalities, including t (5, 9) and t ( 10, 12) in 1 case and﹢12in 1 case. Seven cases had at least one type of molecular cytogenetic aberrations detected by FISH. Four cases were detected with del (11q22.3), and 2 of them showed homogenous deletion. Seven cases were found with del (13q14) and 2 of them showed homogenous deletion. Of the 10CLL cases, 4 had both del (11q22.3) and del ( 13q14). Conclusion: FISH is a rapid, accurate and sensitive technique in detecting chromosome aberration and can provide valuable information of molecular cytogenetics of CLL.

     

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