AML-MTG16融合基因阳性急性髓系白血病临床分析  

Clinical features of AML-MTG16 fusion gene positive acute myeloid leukemia

作　　者：向萌 陈玙 王丽君 杨小飞[1] 陈苏宁[1] XIANG Meng;CHEN Yu;WANG Lijun;YANG Xiaofei;CHEN Suning(The First Affiliated Hospital of Soochow University,Jiangsu Institute of Hematology,National Clinical Medical Research Center for Hematological Diseases,Suzhou,215006,China)

机构地区：[1]苏州大学附属第一医院,江苏省血液研究所,国家血液系统疾病临床医学研究中心,江苏苏州215006

出　　处：《临床血液学杂志》2024年第9期663-666,671,共5页Journal of Clinical Hematology

基　　金：国家自然科学基金(No:81970142、82170158)。

摘　　要：探究AML-MTG16融合基因阳性的急性髓系白血病(acute myeloid leukemia,AML)患者的特点以及可能的致病机制。回顾性分析3例AML-MTG16融合基因阳性AML患者的临床资料并复习相关文献,探讨其临床特点。研究纳入AML-MTG16融合基因阳性AML患者3例,其中男1例,女2例,以成人为主,初诊时1例出现嗜酸性细胞增多;3例患者CD13、CD33、CD34均阳性,2例出现CD19共表达,其中1例伴cCD79a弱阳性;1例患者出现额外的+8染色体异常,2例合并GATA2基因突变,1例患者合并KRAS基因突变,1例患者合并BCOR基因、DNMT3A、U2AF1、NRAS突变。2例患者给予IA方案(去甲氧柔红霉素12 mg/m^(2)/d×3 d+阿糖胞苷100~200 mg/m^(2)/d×7 d)化疗后达完全缓解,后经异基因造血干细胞移植达持续缓解;1例患者行DAC+半程ECAG(地西他滨20 mg/m^(2)×3 d,阿克拉霉素20 mg,隔日1次×3 d,阿糖胞苷10 mg/m^(2),每12 h 1次×7 d,粒细胞集落刺激因子300μg,每日1次×7 d)方案化疗后缓解,后复发,行HD-Arac+VP16(阿糖胞苷2 g/m^(2),每12 h 1次×3 d,依托泊苷100 mg/m^(2)/d×6 d)方案化疗后达CR2。AML-MTG16融合基因阳性多以成人为主,女性多见,部分患者可合并嗜酸性粒细胞增多,且预后不良。To investigate the clinical characteristics and possible pathogenic mechanisms of AML-MTG16 fusion gene-positive acute myeloid leukemia(AML)patients.The clinical data of three AML-MTG16-positive AML patients were retrospectively analyzed,and the relevant literature were reviewed to explore their clinical characteristics.This study included 3 cases of AML-MTG16 fusion gene-positive AML patients,with one male and two females.The majority of patients were adults.One patient presented with an increase in eosinophil count at the initial diagnosis.All 3 patients were positive for CD13,CD33,and CD34.Two cases showed co-expression of CD19,and among them,one case had weakly positive cCD79a.Additionally,one patient presented with an additional abnormality of chromosome 8,two cases had GATA2 gene mutations,one patient had a KRAS gene mutation,and one case had concurrent mutations in BCOR gene,DNMT3A,U2AF1,and NRAS.Two cases achieved complete remission after receiving IA regimen(deoxyrubicin 12 mg/m^(2)/d×3 d+cytarabine 100-200 mg/m^(2)/d×7 d)followed by transplantation,maintaining sustained complete remission.One patient achieved complete remission after receiving DAC+half-ECAG(decitabine 20 mg/m^(2)×3 d,aclacinomycin 20 mg,once every other day×3 d,cytarabine 10 mg/m^(2),once every 12 hours×7 d,granulocyte colony-stimulating factor 300μg,once daily×7 d)regimen,but later relapsed and achieved CR2 after receiving HD-Arac+VP16(cytarabine 2 g/m^(2),once every 12 hours×3 d,etoposide 100 mg/m^(2)/d×6 d)regimen.AML-MTG16-positive AML is predominantly seen in adults,with a higher prevalence in females.Some patients may also have an increase in eosinophils,and they generally have a poor prognosis.

关 键 词：AML-MTG16 急性髓系白血病 t(16 21)(q24 q22) 

分 类 号：R733.71[医药卫生—肿瘤]