成人早期前体T急性淋巴细胞白血病的临床特征及预后

Clinical features and treatment outcome of adult early T cell precursor acute lymphoblastic leukemia

目的:探讨成人早期前体T急性淋巴细胞白血病(ETP-ALL)的临床特征与治疗效果。方法:回顾性研究71例成人T细胞急性淋巴细胞白血病(T-ALL)患者,根据免疫表型定义ETP-ALL,分析其临床特征和疗效。结果:71例成人T-ALL中有15例(21.1%)ETP-ALL患者。与其他T-ALL患者相比,ETP-ALL的中位年龄、血小板计数更高(31岁∶21岁,P=0.008;102×10~9/L∶55×10~9/L,P=0.015),而白细胞计数显著更低(8.5×10~9/L∶53×10~9/L,P=0.008)。二代测序筛查4例患者基因突变,检出JAK3、JAK1、ETV6、DNMT3A、p53等突变,其中3例有JAK3突变。与其他T-ALL患者相比,ETP-ALL患者1个疗程诱导治疗完全缓解率低(46.2%∶73.9%,P=0.059),第1个疗程和第2个疗程微小残留病阳性率高(84.6%∶50.0%,P=0.026;72.7%∶27.9%,P=0.006)。ETP-ALL与其他T-ALL患者的5年无复发生存率及总生存率比较均差异无统计学意义(18%∶24%,P=0.471;27%∶19%,P=0.515)。结论:成人ETP-ALL早期治疗反应差,MRD阳性率高。

Objective:To analyze clinical features and treatment outcome of adult early T cell precursor acute lymphoblastic leukemia(ETP-AL).Method:In this retrospective analysis,we included 71 adult patients with T cell acute lymphoblastic leukemia(T-ALL).We performed clinicobiologic and therapeutic analyses of patients with ETP-ALL defined by immunophenotyping.Result:Fifteen patients(21.1%)had leukemic lymphoblasts with ETPALL associated distinctive immunopehnotype.Compared with other T-ALL patients,the median age and platelet count in patients with ETP-ALL were higher(31 years vs 21 years,P=0.008;102×10~9/L vs 55×10~9/L,P=0.015),while the WBC count was significantly lower(8.5×10~9/L vs 53×10~9/L,P=0.008).With the use of next generation sequencing,JAK3,JAK1,ETV6,DNMT3 A,p53 and other mutations were detected in 4 cases with ETP-ALL.Three of the 4 patients had JAK3 gene mutation.The complete remission rate and minimal residual disease(MRD)after the first course of induction treatment were inferior to patients with other T-ALL(46.2% vs73.9%,P=0.059;84.6% vs 50.0%,P=0.026),the same results happened as MRD after the second treatment course(72.7% vs 27.9%,P=0.006).The relapse-free survival rate and overall survival rate for adults with ETPALL group were not inferior to those of the other T-ALL group(18% vs 24%,P=0.471;27% vs 19%,P=0.515).Conclusion:Patients with ETP-ALL have poor response to early treatment and high positive rate of MRD.