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急性髓性细胞白血病(AML)是一种异质性和克隆性的造血干细胞(HSC)疾病,由于HSC获得性异常遗传,使HSC异常自我更新、增殖和分化,故遗传物质异常导致AML发病。但40%～49%的AML患者为正常染色体核型〔1〕。因此,对于正常核型AML患者的分子遗传学研究有重要意义。已经有许多影响正常核型AML患者预后的基因突变和基因表达变化被证实,如FMS样酪氨酸激酶3(FLT3)基因突变、核磷蛋白1(NPM1)基因突变、MLL基因部分串联重复(MLL-PTD)、髓系转录因子CCAAT增强子结合蛋白-A(CEBPA)基因突变及脑和急性白血病胞质(BAALC)基因过表
Acute myeloid leukemia (AML) is a heterogeneous and clonal hematopoietic stem cell (HSC) disorder characterized by inherited genetic abnormalities resulting from the abnormal inheritance of HSC that renders HSC abnormally self-renewing, proliferating and differentiating. However, 40% to 49% of AML patients with normal chromosome karyotype 〔1〕. Therefore, for the normal karyotype AML patients with molecular genetic studies of great significance. There have been many gene mutations and gene expression changes that affect the prognosis of normal karyotype AML patients, such as FMS-like tyrosine kinase 3 (FLT3) gene mutation, nuclear phosphoprotein 1 (NPM1) gene mutation, partial MLL gene tandem duplication MLL-PTD), mutation of myeloid transcription factor CCAAT enhancer binding protein-A (CEBPA) gene and overexpression of BAALC gene in brain and acute leukemia