30例慢性淋巴细胞白血病分子遗传学异常的FISH检测的意义

为探讨间期荧光原位杂交（FISH）在检测慢性淋巴细胞白血病（CLL）＋12、del（13q14）、p53基因缺失、atm基因缺失情况中的意义，采用组合探针（CEP12、LSI D13S319、LSI p53、LSI atm）对30例CLL患者进行FISH检测，分析分子遗传学异常与患者外周血淋巴细胞绝对计数、Binet分期、血清乳酸脱氢酶（LDH）和B：微球蛋白（β2-MG）水平、ZAP-70和CD38表达之间的相关性。结果发现，30例CLL患者中，19例（63．3％）存在1种及1种以上细胞遗传学异常，7例（23．3％）同时检测出2种及2种以上的异常，其中最常见为del（13q14）（43．3％），其他依次为＋12（23．3％），atm基因缺失（13．3％），p53基因缺失（10．0％）。各分子遗传学异常与性别、年龄、Binet分期、外周血淋巴细胞绝对计数、血清LDH和β2-MG水平、ZAP-70表达水平无明显相关性（p〉0．05），在CD38高表达组中，atm基因缺失的发生率均明显高于CD38低表达组，且差异有统计学意义（p=0．035）。结论：FISH是一种检测CLL患者分子遗传异常快速、准确及敏感的方法，其在CLL患者中的预后预测价值有待进一步的深入研究。

Detection of Molecular Cytogenetic Abnormalities in 30 Patients with Chronic Lymphocytic Leukemia by Fluorescence In Situ Hybridization

This study was aimed to investigate the significance of interphase fluorescence in situ hybridization （FISH） in detecting ＋ 12 ,del（ 13q14 ） ,p53 and arm gene deletion in chronic lymphocytic leukemia （CLL）. FISH and a panel of probes （CEP 12, LSI D13S319, LSI p53, LSI atm） were used to detect molecular cytogenetic abnormalities in 30 patients with CLL. Cytogenetic aberrations and their relation with some other prognostic factors （peripheral lymphocyte count, Binet stage, LDH level, ZAP-70 and so on） were analyzed. The results indicated that out of the 30 CLL patients, molecular cytogenetic aberrations were found in 19 （63.3%） cases and 7 （23.3%） patients showed more than two kinds of abnormalities. The most frequent abnormality detected was del（13q14） （43.3%）, followed by trisomy of chromosome 12 （23.3%）, del（atm） （ 13.3% ） and del（ p53 ） （ 10.0% ）. There were no significant differences between molec, ular cytogenetic aberrations and sex, age, Binet stage, peripheral lymphocyte count, or the serum levels of lactate dehydrogenase （LDH）, β2-microglobulin （β2-MG）, or ZAP-70. The incidence of atm gene deletion was higher in the group of CD38 high expression than that in the group of low expression （p = 0. 035 ）. It is concluded that FISH is a rapid and sensitive technique in analysing molecular cytogenetic abnormalities, but its prognostic significance in CLL needs to further investigate