Acute Myeloid Leukemia
Acute Myeloid Leukemia
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DOI：
10.1007/978-3-030-73227-1_13
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发表时间：
2021
期刊：
影响因子：
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通讯作者：
Guang Yang;Linsheng Zhang
中科院分区：
文献类型：
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作者：
Guang Yang;Linsheng Zhang
急性髓性白血病（AML）是一种遗传水平上的异质性恶性肿瘤，AML的分子遗传学分析不仅对诊断和分类至关重要，而且对预后分层、治疗决策和微小残留病监测也至关重要。与白血病发生的病理生物学和临床管理相关的多个基因的基因检测已经是AML患者的护理标准，并且几个基因的突变具有越来越大的临床重要性。本章回顾了AML常见的细胞遗传学和分子遗传学异常，沿着这些异常的分析方法和途径，以解决AML患者病理诊断中经常遇到的实际问题，以及指导精确AML管理的分子检测的临床解释中的关键点和陷阱。最后，五个案件，以说明不同的AML实体的分子遗传病理。
Acute myeloid leukemia (AML) is a heterogeneous malignancy at the genetic level, and molecular genetic analysis of AML has become critical not only for diagnosis and classification but also for prognostic stratification, treatment decisions, and monitoring of minimal residual disease. Genetic testing of multiple genes relevant to the pathobiology of leukemogenesis and clinical management is already the standard of care in patients with AML, and mutations in several genes are assuming increasing clinical importance. This chapter reviews the common cytogenetic and molecular genetic abnormalities of AML, along with the approaches and methods used in the analysis of these abnormalities to address the practical questions frequently encountered in the pathologic diagnosis of AML patients, as well as key points and pitfalls in the clinical interpretation of molecular tests in guiding precision AML management. At the end, five cases are presented to illustrate the molecular genetic pathology of different AML entities.