MLL基因重排在急性白血病亚型分布及疗效分析  

Distribution and efficacy of MLL gene rearrangement in acute leukemia subtypes

作　　者：刘之茵[1] 张苏江[1] 陈玉宝[1] 严泽莹[1] 王莹[1] 李佳明[1] 孙海敏 安然 陈钰[1] LIU Zhiyin;ZHANG Sujiang;CHEN Yubao;YAN Zeying;WANG Ying;LI Jiaming;SUN Haimin;AN Ran;CHEN Yu(Department of Hematology,Ruijin Hospital Affiliated to Shanghai JiaoTong University School of Medicine,Shanghai,201800,China)

机构地区：[1]上海交通大学医学院附属瑞金医院血液科,上海201800

出　　处：《临床血液学杂志》2021年第3期177-181,共5页Journal of Clinical Hematology

摘　　要：目的:分析MLL基因重排急性白血病的临床、实验室特征及预后情况。方法:回顾性分析2016年8月—2020年8月确诊的23例MLL基因异常急性白血病患者的临床和实验室资料。结果:2016年8月—2020年8月我院收治的急性白血病患者共350例,其中急性髓系白血病(AML)225例,急性淋巴细胞白血病(ALL)125例,有MLL基因重排者23例(AML-M57例,AML-M43例,MDS转化AML 4例,AML-M24例,B-ALL 5例),占所有急性白血病的6.57%(23/350),在AML中比例为8%(18/225),在ALL中比例为4%(5/125)。18例MLL基因重排AML患者中,MLL-PTD阳性11例(61.1%),MLL-AF6阳性1例,MLL-ELL阳性3例,MLL-AF9阳性3例。5例MLL基因重排B-ALL患者,均为MLL-AF4阳性。23例患者经过2个疗程诱导化疗后,只有11例(47.8%)达完全缓解。接受移植的9例患者中位生存期为24(12~45)个月,未接受移植的14例患者中位生存期为15(0.53~48)个月,差异有统计学意义(P<0.05)。结论:伴MLL基因异常的AML中FAB分型以M5、M4居多,基因异常类型以MLL-PTD居多,伴MLL基因异常的ALL主要为B-ALL,基因异常类型主要是MLL-AF4。此类白血病对传统化疗反应不良,易复发,已成为疾病预后不良的标志,异基因移植有可能改善其预后。Objective: To analyze the clinical and laboratory characteristics and prognosis of acute leukemia(AL) patients with MLL gene rearrangements. Methods: The medical records of 23 AL patients with MLL gene abnormality from August 2016 to August 2020 were retrospectively analyzed. Results: From August 2016 to August 2020, 350 cases of AL were treated in our hospital, including 225 cases of acute myeloid leukemia(AML) and 125 cases of acute lymphoblastic leukemia(ALL). Twenty-three cases with MLL gene rearrangements were identified(7 cases of AML-M5, 3 cases of AML-M4, 4 cases of AML transformed from MDS, 4 cases of AML-M2, 5 cases of B-ALL), accounting for 6.57%(23/350) of AL, 8%(18/225) of AML and 4%(5/125) of ALL. Of the 18 AML patients with MLL gene rearrangement, 11 cases(61.1%) were MLL-PTD(+), 1 case was MLL-AF6(+), 3 cases were MLL-ELL(+), 3 cases were MLL-AF9(+). All the 5 B-ALL patients with MLL gene rearrangement were MLL-AF4(+). After 2 courses of induction chemotherapy, only 11 cases(47.8%) of the 23 patients achieved complete remission. The median survival time of the 9 patients who received hematopoietic stem cell transplantation was 24(12 to 45) months, and the median survival time of the 14 patients who didn’t receive hematopoietic stem cell transplantation was 15(0.53 to 48) months(P<0.05). Conclusion: The FAB classification of AML with MLL gene abnormality is mostly M5 and M4, and the gene abnormality type is mostly MLL-PTD. ALL with MLL gene abnormality is mainly B-ALL, and the gene abnormality type is mainly MLL-AF4. AL patients with MLL gene rearrangements have adverse events to conventional chemotherapy and are easy to relapse, which become a sign of poor prognosis. Allogeneic transplantation may improve its prognosis.

关 键 词：急性白血病 MLL基因重排 造血干细胞移植 预后 

分 类 号：R733.71[医药卫生—肿瘤]