伴t(6;11)(q27;q23)/MLL-AF6急性白血病的检测和临床特征观察  

Detection and clinical features of acute leukemia accompanying with t( 6; 11)( q27; q23) /MLL-AF6

作　　者：王东宁[1] 何易[1] 李旭东[1] 王文文[1] 胡元[1] 黄仁魏[1] 

机构地区：[1]中山大学附属第三医院血液科,广东广州510630

出　　处：《中国卫生检验杂志》2013年第18期3554-3557,共4页Chinese Journal of Health Laboratory Technology

摘　　要：目的研究伴t(6;11)(q27;q23)/MLL-AF6重排的急性白血病的临床特点。方法运用常规染色体核型分析、荧光原位杂交(FISH)和逆转录多重巢式聚合酶链反应技术(multiplex RT-PCR.)检测伴t(6;11)(q27;q23)/MLL-AF6的急性白血病患者,观察此遗传学异常的临床特点和治疗效果。结果原发急性白血病患者295例共检出伴t(6;11)(q27;q23)/MLL-AF6重排5例,均为急性髓系白血病M5。中位年龄37岁。染色体核型分析,FISH和RTPCR结果一致确认t(6;11)(q27;q23)/MLL-AF6的存在2例;2例FISH和RT-PCR结果证实存在mll/AF6;1例伴dup(11q23)阳性。患者中位生存期8个月。结论伴t(6;11)(q27;q23)/MLL-AF6的急性白血病患者主要见于急性髓系白血病M5亚型,临床表现以白细胞升高,肝脾肿大为主。常规染色体核型分析、FISH和多重巢式RT-PCR相结合可提高检出率;伴t(6;11)(q27;q23)/MLL-AF6的急性白血病对常规化疗反应差,预后不良,及早地进行异基因造血干细胞移植可能会有更好的治疗效果。Objective To observe the clinical features and therapeutic effect of t （6 ; 11 ） （ q27 ; q23 ）/MLL - AF6 rearrange- ments in acute leukemia. Methods A total of 295 newly diagnosed acute leukemia patients were detected by conventional cyto- genetics analysis, fluorescence in situ hybridization （FISH） and reverse transcription- multiplex nested PCR （multiplex RT- PCR）. Meanwhile, the clinical data were analyzed retrospectively in the patients with t（6;11 ）（ q27 ;q23）/MLL- AF6 abnor- mality. Results Five cases with t （6 ; 11 ） （ q27 ; q23 ）/MLL - AF6 rearrangement were found with a median age of 37 years old. All patients had acute monocytic leukemia （M5）. The cytogenetics analysis revealed 2 cases with t（6;11 ） （q27 ;q23 !, 2 cases with MLL - AF6 positive confirmed by FISH and RT - PCR in all patients, and 1 case with dup （ 11 q23 ） positive con- firmed by RT - PCR. The median survival time of all patients were 8 months. Conclusion Most t （6 ; 11 ） （ q27 ; q23 ）/MLL - AF6 may be identical in acute monocytic leukemia（ M5 ）, the major clinical manifestations are hyperleukocytosis and hepatomeg- aly, splenomegaly and lymphadenectasis. Karyotype analysis combining with FISH and Multiplex RT - PCR can improve the de- tection rate of clonal genetic abnormalities in malignant hematologic diseases. Allogeneic hematopoietic stem cell transplantation may be a optimal choice for leukemia with t （6;11 ） （q27 ;q23 ）/MLL -AF6 rearrangement for its poor prognosis.

关 键 词：11q23异常 MLL—AF6基因 白血病 干细胞移植 

分 类 号：R733.71[医药卫生—肿瘤]