AML World Awareness Day 21 April 2019

AML Mutations

This section of the website is designed to highlight the latest guidelines for acute myeloid leukemia (AML) for healthcare professionals (HCPs)

Genetic evolution in AML

Acute myeloid leukemia (AML) is a complex, heterogeneous, and aggressive disease, characterized by multiple somatic mutations and disease evolution. The classification and understanding of AML has progressed from purely focusing on morphological features, cytogenetics, and phenotypic characteristics to a greater emphasis on molecular genetic abnormalities.

The World Health Organization (WHO) classification defines AML in terms of disease entities categorized by cytogenetic and molecular genetic subgroups. It is important to note that detection of these genetic abnormalities such as chromosomal rearrangements and/or gene mutations is crucial in AML and these distinct entities carry different prognoses and therapeutic implications.

In recent years, there have been many important breakthroughs in understanding the genomic landscape of AML. There has also been rapid progress in identifying different types of mutations and understanding their clinical significance, and in many instances, developing specific therapies directed at such abnormalities. The 2017 European LeukemiaNet (ELN) guidelines for Diagnosis and Management of AML in adults recommend screening patients to identify mutations at diagnosis. Mutations that were recommended for screening include: mutations in NPM1, CEBPA, and RUNX1 genes, as well as mutations in FLT3, IDH1 and IDH2, TP53, and ASXL1. Molecular testing of these abnormalities is not only of prognostic value, but can aid a more individualized approach to patient management.