摘要
Acute myeloid leukemia(AML)is a very heterogeneous neoplasm of the hematopoietic stem cell.Despite important achievements in the treatment of AML,the long term survival of patients with the disease remains poor.Understanding the pathogenesis of AML better is crucial forfinding new treatment approaches.During AML development,hematopoietic precursor cells undergo clonal transformation in a multistep process through acquisition of chromosomal rearrangements and/or different gene mutations.Over recent years,novel gene mutations have been found in patients with AML.These mutations can be divided into two important categories,class I mutations that confer a proliferation advantage and class II mutations that inhibit myeloid differentiation.Screening for some of these mutations is now part of the initial diagnostic work-up in newly diagnosed AML patients.Information about the mutation status of specific genes is useful for risk-stratification,minimal residual disease(MRD)monitoring and increasingly also for targeted therapy,especially for patients with cytogenetically normal AML(CN-AML).Besides chromosomal rearrangements and gene mutations,epigenetic regulation of genes–meaning changes in gene expression by mechanisms other than changes in the underlying DNA sequence–also represents an important mechanism of leukemogenesis.This article reviews some of the most common mutations in CN-AML and gives a perspective of the translation of these discoveries from bench to bedside.
