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如何阅读AML和MDS的下一代测序报告? 血液学家需要知道什么

Salvatore Perrone¹, Cristina Tresoldi², Silvia Rigamonti²

¹Department of Hematology, Santa Maria Goretti Hospital, Polo Universitario Pontino, 04100 Latina, Italy.

Journal of clinical medicine

|December 30, 2025

概括

下一代测序 (NGS) 对于诊断和管理急性髓性白血病 (AML) 和骨髓质瘤 (MDS) 是至关重要的. 这项技术有助于风险分层,监测残留疾病,指导治疗决策,改善患者的治疗结果.

科学领域:

血液学血液学血液学
基因组学就是基因组学.
在瘤学瘤学.

背景情况:

急性骨髓性白血病 (AML) 和骨髓囊性瘤 (MDS) 是显著的血液性恶性瘤.
下一代测序 (NGS) 已经彻底改变了这些疾病的分子特征.

研究的目的:

审查NGS在AML和MDS临床管理中的优势,局限性和未来.
强调这些血液性恶性瘤中NGS的生物和技术原理.
引导临床医生解释复杂的分子数据用于诊断,预后和治疗.

主要方法:

有针对性的NGS面板是目前用于检测反复突变,结构变异和基因融合的标准.
全基因组,全外基因组和RNA测序提供了更广泛的检测,但对于常规诊断来说不那么实用.
生物信息管道和质量指标对于准确的变异调用和验证至关重要.

主要成果:

国家基因系统集成到诊断框架 (WHO 2022,ICC) 和预后模型 (ELN-2022,IPSS-M) 中.
NGS使可测量的残留疾病 (MRD) 监测成为可能,并增加了临床效用.
诊断NGS识别了生殖线倾向综合征,影响了治疗和移植.

结论:

在AML和MDS中,NGS显著影响诊断,风险分层和治疗决策.
基于NGS的MRD监测的标准化正在进行中.
了解NGS基础对于临床医生管理这些复杂的血液性恶性瘤至关重要.

关键词:

在NGS-报告中.急性髓性白血病 (AML) 是一种疾病.生殖线倾向于发生髓状瘤.可测量的残留疾病 (MRD)骨髓分裂性瘤 (MDS) 是一种下一代测序 (NGS) 是指下一代的测序.

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