五例伴t(12;22)(p13;q12)髓系白血病的遗传学研究  

Molecular cytogenetic characterization of five patients with myeloid leukemia and t(12;22)(p13;q12)

作　　者：邵海刚 杨倩 公艳蕾[1] 白淑潇[1] 张俊[1] 王勇[1] 沈娟[1] 吴春晓[1] 仇惠英[1] 陈苏宁[1] 潘金兰[1] Shao Haigang;Yang Qian;Gong Yanlei;Bai Shuxiao;Zhang Jun;Wang Yong;Shen Juan;Wu Chunxiao;Qiu Huiying;Chen Suning;Pan Jinlan(The First Affiliated Hospital of Soochow University,Jiangsu Institute of Hematology,Key Laboratory of Thrombosis and Hemostasis of the Minzstry of Health,Suzhou,Jiangsu 215006,China)

机构地区：[1]苏州大学附属第一医院,江苏省血液研究所,卫生部血栓与止血重点实验室,215006

出　　处：《中华医学遗传学杂志》2019年第2期112-115,共4页Chinese Journal of Medical Genetics

摘　　要：目的 分析5例伴t(12;22)(p13;q12)髓系白血病的临床和实验室特点。 方法 采用骨髓细胞短期培养法制备染色体标本,R显带技术进行染色体核型分析;采用MN1双色断裂重排探针和荧光原位杂交(fluorescence in situ hybridization,FISH)技术检测该基因重排;应用多重RT-PCR技术检测ETV6-MN1/MN1-ETV6融合基因及测序分析。 结果 5例患者中4例为急性髓系白血病(2例AML-M0、2例AML-M4)、1例为慢性粒单核细胞白血病(CMM0L)。核型分析5例t(12;22)(p13;q12)均为原发性异常,并经FISH证实为MN1基因重排;其中4例患者进行RT-PCR及测序检测,结果显示4例ETV6-MN1融合基因阳性、3例MN1-ETV6融合基因阳性。 结论 t(12;22)(p13;q12)是一种罕见的再现性染色体异常,该易位产生ETV6-MN1/MN1-ETV6融合基因。Objective To explore the clinical and laboratory characteristics of 5 patients with myeloid leukemia and t(12;22)(p13;q12).Methods Bone marrow cells were cultured for 24 h and analyzed by standard R-banding. Rearrangement of the MN1 gene was detected by fluorescence in situ hybridization (FISH) using dual color break-apart MN1 probes. MN1-ETV6 and ETV6-MN1 fusion genes were detected by reverse transcription polymerase chain reaction (RT-PCR). And the products were subjected to direct sequencing.Results Among the 5 patients, 2 had AML-M0, 2 had AML-M4, and 1 had CMM0L at the initial diagnosis. t(12;22)(p13;q12) was the primary abnormality among all patients. Rearrangements of MN1 gene were detected by FISH in all patients. MN1-ETV6 and ETV6-MN1 fusion genes were detected respectively in 4 and 3 patients. Conclusion t(12;22)(p13;q12) is a rare but recurrent chromosomal abnormality in myeloid leukemia, and is related to poor prognosis. allo-SCT is valuable for patients with t(12;22)(p13;q12).

关 键 词：MN1-ETV6融合基因 再现性染色体异常 髓系白血病 

分 类 号：R733.7[医药卫生—肿瘤]