伴MLL基因异常白血病的检测及其临床意义

Detection and clinical significance of leukemia with MLL gene abnormalities

目的研究伴混合谱系白血病(MLL)基因异常白血病的发病率及临床特征。方法回顾性分析单中心近五年来所有住院急性白血病患者的临床资料,采用多重逆转录聚合酶链式反应(RT-PCR)的方法筛选出MLL基因异常的患者,收集临床和预后资料进行分析。结果 2013年1月至2018年1月间我院收治的初发急性白血病223例(ALL 72例,AML 151例),其中MLL相关白血病患者资料完整的16例(ALL 3例,AML 13例)。MLL相关白血病占ALL的4.2%,AML的8.6%。16例患者经过2个疗程诱导化疗后达到完全缓解的只有7例(CR率43.8%)。11例患者进行了造血干细胞移植(HSCT),其中7例为单倍型移植,3例为同胞全相合移植,另外1例为脐血移植。16例患者随访4～51个月,中位随访时间17个月,期间9例患者死亡。16例患者的生存分析结果显示,这组患者的3年总生存率(OS)仅约40%,无进展生存率(PFS)约为30%。结论伴MLL基因异常的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 study the incidence rate and clinical characteristics of leukemia with MLL(mixed lineage leukemia)gene abnormalities.Methods The clinical data of all acute leukemia patients hospitalized in a single center for the past five years were retrospectively analyzed.Multiple reverse transcriptase polymerase chain reaction(RT-PCR)was used to screen the patients with MLL gene abnormalities,and then,clinical and prognostic data were collected for analysis.Results From January 2013 to January 2018,223 cases of primary acute leukemia were treated in our hospital(72 cases of ALL and 151 cases of AML),of which 16 cases with MLL-related leukemia had complete data(3 cases of ALL,13 cases of AML).MLL-associated leukemia accounted for 4.2%of ALL and 8.6%of AML.After 2 courses of induction chemotherapy,only 7 ones of the 16 patients achieved complete remission(CR rate of 43.8%).Eleven patients underwent hematopoietic stem cell transplantation(HSCT),of which 7 cases were haploid transplants,3 were sibling-homogeneous transplants,and 1 was cord blood transplantation.Sixteen cases were followed up for 4 to 51 months.The median follow-up time was 17 months,during which 9 patients died.The survival analysis of 16 patients showed that the 3-year overall survival(OS)in this group was only about 40%,and the rate of progression-free survival(PFS)was about 30%.Conclusion Leukemia with MLL gene abnormalities is poorly responding to conventional chemotherapy and is prone to recurrence,which become a sign of poor prognosis.Allogeneic transplantation may improve its prognosis.