Article Abstract

Molecular landscape in adult acute myeloid leukemia: where we are where we going?

Authors: Daniela Damiani, Mario Tiribelli


The last years has further unraveled the genetic complexity of acute myeloid leukemia (AML). Traditionally, AML risk stratification has relied on cytogenetic markers, defining three categories (favorable, intermediate and unfavorable); however, chromosomal abnormalities are present only in about 50% of AML cases. The identification of mutation in FLT3, NPM1 and CEPBA genes permitted to better define prognosis in patients with cytogenetically normal AML and are presently included in the classification of AML. Subsequently, recognition of many different gene mutations and epigenetic variance, such as RAS, DNMT3A, IDH1 and IDH2, ASXL1, TET2 and others, have been used in diagnosis and prognostication AML. Unfortunately, this numerous biological evidence has not yet translated in a significance advance in therapeutic strategies, that is largely based on the traditional approach used over the past four decades. In this review we aim to summarize the most recent advances in molecular markers of AML, with especial focus on targetable mutations that may route the development of novel therapies for this dreadful disease.