急性髓系白血病和骨髓增生异常综合征的基因检测
Genetic Testing in Acute Myeloid Leukemia and Myelodysplastic Syndromes.
作者信息
Nardi Valentina, Hasserjian Robert P
机构信息
Department of Pathology, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA.
Department of Pathology, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA.
出版信息
Surg Pathol Clin. 2016 Mar;9(1):143-63. doi: 10.1016/j.path.2015.10.004.
Cytogenetic analysis of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) is essential for disease diagnosis, classification, prognostic stratification, and treatment guidance. Molecular genetic analysis of CEBPA, NPM1, and FLT3 is already standard of care in patients with AML, and mutations in several additional genes are assuming increasing importance. Mutational analysis of certain genes, such as SF3B1, is also becoming an important tool to distinguish subsets of MDS that have different biologic behaviors. It is still uncertain how to optimally combine karyotype with mutation data in diagnosis and risk-stratification of AML and MDS, particularly in cases with multiple mutations and/or several mutationally distinct subclones.
急性髓系白血病（AML）和骨髓增生异常综合征（MDS）的细胞遗传学分析对于疾病诊断、分类、预后分层及治疗指导至关重要。对AML患者进行CEBPA、NPM1和FLT3的分子遗传学分析已成为标准治疗手段，其他多个基因的突变也日益受到重视。对某些基因（如SF3B1）的突变分析也正成为区分具有不同生物学行为的MDS亚组的重要工具。在AML和MDS的诊断及风险分层中，尤其是在存在多个突变和/或几个突变不同的亚克隆的情况下，如何最佳地将核型与突变数据相结合仍不明确。
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