荧光原位杂交技术检测105例慢性淋巴细胞白血病的分子遗传学异常  

Detection of genomic abnormalities among 105 patients with chronic lymphocytic leukemia using fluorescence in situ hybridization

作　　者：王焕萍[1] 徐欢[1] 陈志姝[1] 楼基余[1] 金洁[1] 

机构地区：[1]浙江省血液病研究所、浙江省血液肿瘤(诊治)重点实验室、浙江大学医学院附属第一医院,杭州310009

出　　处：《中华医学遗传学杂志》2017年第3期357-360,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81400080）

摘　　要：目的探讨荧光原位杂交（fluorescence in situ hybridization, FISH）技术在检测慢性淋巴细胞白血病（chronic lymphocytic leukemia,CLL）分子遗传学异常中的应用价值。方法应用FISH技术，用CLL组套探针（D13S319／13q14、ATM/11q22、P53／17p13、CEP12）对105例初诊的CLL患者进行检测，分析分子遗传学异常率及异常与Binet分期的关系，并分析异常对预后的价值。结果在105例CLL患者中，81例存在分子遗传学异常，异常率为77．1％，其中以D13s319／13q14缺失发生率最高，共49例，占46．67％；12号三体24例（22．86％）；ATM／11q缺失2I例（20．00％）；P53／17p缺失12例（11．43％）。Binet分期ABC期与分子遗传学异常的分布差异有统计学意义（P〈0．05）。中位随访10个月，死亡11例（10．5％），13q-患者具有预后较好的趋势，P53缺失患者有预后较差的趋势，各异常患者之间总生存率（overall survival，OS）差异无统计学意义（P〉0．05）。结论FISH可以检出CLL的常见遗传学异常；D13S319／13q14缺失是CLL最常见的分子遗传学异常。分子遗传学异常的分布与Binet分期有显著统计学差异；不同遗传学异常患者之间OS差异无统计学意义。Objective To assess the value of fluorescence in situ hybridization （FISH） for the detection of genomic abnormalities among patients with chronic lymphocytic leukemia （CLL）. Methods Interphase FISH was performed on bone marrow samples derived from 105 patients with CLL at the time of diagnosis using probes for D13S319/13q14, ATM/l1q22, P53 /17p13 and CEP12. The abnormalities and prognostic factors were analyzed. Overall survival of the patients was calculated. Results The FISH assay has detected genomic abnormalities in 81 （ 77. 1% ） of the patients, among which D13S319/13q14 deletion was the most common （49/105, 46. 67%）, 24 （22. 86%） patients had trisomy 12, 21 （20. 00%） had ATM/11q deletion, and 12 （11.43M） had P53 /17p deletion. A significant correlation was found between Binet staging and the detected abnormalities （P〈0.05）. With a median follow-up time of 10 months, 11 patients （10.5%） had died. Compared with those with P53 deletion, patients with 13q deletion showed a better overall survival. However, the overall survival did not significantly differ between patients with various genomic abnormalities （P〉0. 05）. Conclusion FISH is capable of detecting common genomic aberrations among patients with newly diagnosed CLL. Deletion of D13S319/13q14 is the most common aberration in such patients. Genomic aberrations are significantly correlated with Binet staging but not the overall survival of CLL patients.

关 键 词：荧光原位杂交 慢性淋巴细胞白血病 分子遗传学异常 

分 类 号：R733.72[医药卫生—肿瘤]