骨髓增生异常相关急性髓系白血病的诊断及风险分层  

Diagnosis and Risk Stratification of Acute Myeloid Leukemia,Myelodysplasia-Related

作　　者：杨慧[1] 郭睿[1] 时雨 乔纯[1] 王琰[1] 吴雨洁[1] 仇海荣[1] YANG Hui;GUO Rui;SHI Yu;QIAO Chun;WANG Yan;WU Yu-Jie;QIU Hai-Rong(Department of Hematology,Jiangsu Province Hospital,The First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,Jiangsu Province,China)

机构地区：[1]南京医科大学第一附属医院,江苏省人民医院血液科,江苏南京210029

出　　处：《中国实验血液学杂志》2024年第5期1372-1376,共5页Journal of Experimental Hematology

基　　金：江苏省科教能力提升工程(ZDXK202209)。

摘　　要：目的:分析急性髓系白血病伴骨髓增生异常相关(AML-MR)患者的临床和遗传学特征并进行预后风险分层评估,以指导临床治疗决策并提高对疾病发生发展及其生物学特征的认识。方法:对307例诊断为AML-MR患者的细胞和分子遗传信息进行分析,诊断依据包括临床病史、骨髓形态学、细胞遗传学异常和分子遗传学异常。根据2022年ELN指南进行风险分层评估。结果:57例(18.6%)患者根据形态学和病史符合AML-MR诊断标准,110例(37.2%)患者根据细胞遗传学结果符合AML-MR诊断210例(74.5%)根据分子检测结果符合AML-MR诊断。各分子突变类型中以ASXL1突变最为常见,其次是SRSF2和BCOR突变。除2例资料不全不能分类者305例可分类患者中263例(86.2%)归为预后不良组;20例(6.6%)归为预后良好组;其它22例(7.2%)归为预后中等组。结论:分子遗传信息在AML-MR的诊断中起着至关重要的作用,凸显了遗传学在诊断和预后中的重要价值。大多数AML-MR患者属于预后不良类别,需要早期采用强化和靶向治疗以改善生存结果。Objective:To analyze the clinical and genetic characteristics of acute myeloid leukemia,myelodysplasia-related(AML-MR)patients and evaluate their prognostic risk stratification,to guide clinical treatment decisions and improve understanding of the biological characteristics and disease progression.Methods:The study analyzed cellular and molecular genetic information of 307 AML-MR patients,diagnosed based on clinical history,bone marrow morphology,cytogenetics,and molecular genetic abnormalities.The risk stratification followed the 2022 ELN guidelines.Results:57 cases(18.6%)met the AML-MR diagnostic criteria based on morphology and clinical history,110 cases(37.2%)met the AML-MR diagnostic criteria based on cytogenetic results,and 210 cases(74.5%)met the AML-MR diagnostic criteria based on molecular testing results.Among different type of mutations,ASXL1 mutation was the most frequent,followed by SRSF2 and BCOR mutations.Except for 2 cases with incomplete data that could not b classified,263(86.2%)of the 305 patients were classified as poor prognosis,20(6.6%)were classified as good prognosis group,and 22(7.2%)were classified as intermediate prognosis group.Conclusion:Molecular genetic information plays a crucial role in diagnosing AML-MR,highlighting the importance of genetics in diagnosis and prognosis.Most AML-MR patients fall into poor prognosis categories,necessitating early intensive and targeted therapy for better survival outcomes.

关 键 词：骨髓增生异常相关急性髓系白血病 分子遗传 诊断 风险分层 

分 类 号：R733.71[医药卫生—肿瘤]