正常核型急性髓系白血病中具有预后意义的基因改变

Genetic prognostic markers for acute myeloid leukemia with normal cytogenetics

急性髓系白血病（AML）是一类具有遗传学异质性的疾病，大约40％。49％的成年人AML及25％的儿童AML表现为正常核型，并被归人中危组，但因获得性基因改变，如FLT3突变、NPM突变、CEBPA突变、MLL突变、KIT突变以及BAALC、MNl、ERGl及EVIl基因过表达等，导致了该组患者预后的显著异质性，现就几种常见的分子遗传学异常作简要的综述，讨论其在正常核型AML中预后意义及临床价值。

Acute myeloid leukemia （AML） is a heterogenous disorder disease, about 40 %-49 % of the adult AML and 25 % of children had normal karyotype AML, and usually categorized as an intermediaterisk group, but for acquired genetic change, such as mutations of FLT3, NPM1, CEBPα, MLL, and KIT as well as alterations in expression levels of BAALC, MN1, ERG, and EVIl, leading to significant heterogeneity for the prognosis of this group. In this report, prognostic genetic findings in normal karyotypical AML and discuss their clinical implications was reviewed.