中国实验血液学杂志2024,Vol.32Issue(5) :1372-1376.DOI:10.19746/j.cnki.issn1009-2137.2024.05.010

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

杨慧 郭睿 时雨 乔纯 王琰 吴雨洁 仇海荣
中国实验血液学杂志2024,Vol.32Issue(5) :1372-1376.DOI:10.19746/j.cnki.issn1009-2137.2024.05.010

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

杨慧 1郭睿 1时雨 1乔纯 1王琰 1吴雨洁 1仇海荣1
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作者信息

  • 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
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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.

Abstract

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 be 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

Key words

acute myeloid leukemia,myelodysplasia-related/molecular genetics/diagnosis/risk stratification

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出版年

2024
中国实验血液学杂志
中国病理生理学会

中国实验血液学杂志

CSTPCDCSCD北大核心
影响因子:0.988
ISSN:1009-2137
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