应用FISH技术检测慢性淋巴细胞白血病ATM 和RB1基因缺失*

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。

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

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.