MLL基因重排成人急性B淋巴细胞白血病和急性髓系白血病临床特征及预后危险因素分析

The clinical characteristics and prognostic risk factors of B-lymphoblastic leukemia and acute myelogenous leukemia with MLL gene rearrangement

目的分析混合谱系白血病基因重排(MLL-r)成人急性B淋巴细胞白血病(B-ALL)和急性髓系白血病(AML)的临床特征、治疗疗效及预后危险因素。方法选取2017年1月至2021年11月中国科学技术大学附属第一医院(安徽省立医院)血液内科收治的17例MLL-r B-ALL和25例MLL-r AML为研究对象,回顾性分析患者临床特征、治疗疗效及总体生存率,使用COX回归分析影响患者预后危险因素。结果MLL-r成人急性白血病诊断时常表现为外周血白细胞异常升高、贫血和血小板减少,诊断时中位白细胞计数为46.83(8.13,99.93)×109/L。MLL-r B-ALL最常见的重排为MLL-AF4重排;MLL-r AML最常见重排为MLL-AF9和MLLAF6重排。单纯化疗复发率高,异基因造血干细胞移植可以显著改善患者预后(P<0.05)。此外,多因素回归分析影响患者总生存期(OS)的因素,诊断时白细胞计数≥100×109/L(HR=8.030,95%CI:1.327~48.594,P=0.023)及异基因造血干细胞移植(HR=0.079,95%CI:0.015~0.423,P=0.003)为影响MLL-r AML患者OS的因素;异基因造血干细胞移植(HR=0.054,95%CI:0.006~0.481,P=0.009)为影响MLL-r B-ALL患者OS的因素。结论MLL-r急性白血病诊断时常表现为白细胞异常升高,单纯化疗复发率高,总体预后不佳,异基因造血干细胞移植可改善患者预后。

Objective To explore the clinical characteristics and prognostic risk factors of B-acute lymphoblastic leukemia(B-ALL)and acute myelogenous leukemia(AML)with mixed lineage leukemia gene rearrangement(MLL-r).Methods From January 2017 to Novem⁃ber 2021,the clinical data of 17 B-ALL patients and 25 AML patients with MLL gene rearrangement were retrospectively analyzed.Patient characteristics,treatment response,and overall survival were analyzed.Moreover,the prognostic factors in patients with MLL gene rearrange⁃ment were also evaluated based on a COX model.Results Leukocytosis was the main symptom of adult acute leukemia with MLL gene rear⁃rangement,and the median leukocyte count was 46.83(ranging from 8.13 to 99.93)×109/L.MLL-AF4 was the most common partner gene in pa⁃tients with B-ALL,while MLL-AF9 rearrangement and MLL-AF6 rearrangement were the most common partner genes in patients with AML.Moreover,the prognostic factors in patients with MLL gene rearrangement were also evaluated based on a Cox model.WBC≥100×109/L(HR=8.030,95%CI:1.327~48.594,P=0.023)and allogeneic hematopoietic stem cell transplantation(allo-HSCT)(HR=0.079,95%CI:0.015~0.423,P=0.003)were risk factors for OS in AML patients,while allo-HSCT(HR=0.054,95%CI:0.006~0.481,P=0.009)was a risk factor for OS in patients with B-ALL.Conclusions Leukocytosis is the main symptom of patients with MLL gene rearrangement.Patients present a high recurrence rate after treatment with conventional chemotherapy,and allo-HSCT can significantly improve the prognosis of these patients.