间期荧光原位杂交检测慢性淋巴细胞白血病分子遗传学异常  

Molecular cytogenetic abnormalities in chronic lymphocytic leukemia detected by interphase fluorescence in situ hybridization

作　　者：邹昭玲[1] 曹祥山[1] 王志林[1] 邱国强[1] 吴浩清[1] 

机构地区：[1]苏州大学附属第三医院 江苏省常州市第一人民医院血液科,213003

出　　处：《白血病．淋巴瘤》2010年第3期146-149,共4页Journal of Leukemia & Lymphoma

基　　金：卫生部科研基金（WKJ2007-3-001）

摘　　要：目的 探讨慢性淋巴细胞白血病（CLL）的分子遗传学异常情况及其临床意义.方法 对17例初诊CLL患者进行常规细胞遗传学（CC）检测及应用着丝粒探针CSP12（12p11.1～12q11.1）和序列特异性探针D13s25（13q14.3）、ATM（11q22.3）、RBl（13q14）、p53（17p13.1）进行间期荧光原位杂交（I-FISH）检测.结果 CC检测18.75%患者有核型异常,1例未见核分裂象;I-FISH检测70.6%患者有分子遗传学异常,13q-异常47.1%（RBI缺失23.5%、D13S25缺失29.4%）、＋12异常29.4%、p53基因缺失11.8%、ATM缺失5.6%、复杂基凶组异常11.8%.分子遗传学异常与性别、年龄、乳酸脱氢酶（LDH）、β2-微球蛋白（β2-MG）及Binet分期尤明显相关性.结论 I-FISH是检测CLL患者基因组异常的有效手段,与CC方法相比可明显提高CLL分子遗传学异常的检出率,分子遗传学异常与临床分期及其他临床指标无明显相关性,对患者预后的意义有待进一步研究.Objective To investigate molecular cytogenetic abnormalities in chronic lymphocytic leukemia and clinic prognostic significance. Methods Conventional cytogenetics （CC） examination was performed in 17 cases with CLL by I-FISH with five probes [DI3S25（13q14.3）, ATM（11q22.3）, RB1（13q14）, p53（17p13.1） and CSP12（12p11.1-12q11.1）]to detect molecular cytogenetic abnormalities in CLL. Results Among 17 cases of CLL, by CC examination, only 18.75 % patient were found to have chromosomal abnormalities;whereas on I-FISH, 70.6 % patient were found to have molecular cytogenetic abnormalities including 13q-（47.1%） del（RB1） （23.5 %）, del（13q13.4）（29.4 %）, trisomy 12 （29.4%）, del（17p13.1）（11.8 %）, del （ATM）（5.6 %）, the frequency of complex abnormalities were 11.8 %. No correlation of molecular cytogenetic abnormalities with sex, age, Binet stage, LDH and β2-MG were found. Conclusion I-FISH is a more rapid, accurate and sensitive technique for detection of molecular cytogenetic abnormalities in CLL than CC, There was no statistically significant difference between molecular cytogenetic abnormalities and clinic characteristics, but its prognostic significance in CLL needs to be further investigated.

关 键 词：白血病 淋巴细胞 慢性 间期荧光原位杂交 分子遗传学 

分 类 号：R733.7[医药卫生—肿瘤]