Molecular Abnormalities in AML

Haema 2017; 8(2): 136-146

by Maria Papaioannou

Associate Professor of Haematology Aristotle University of Thessaloniki, 1st Departement of Internal Medicine, AHEPA General Hospital, Thessaloniki, Greece

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Acute myeloid leukemia (AML) is a genetically heterogeneous clonal disease of the hematopoietic stem cell characterized by genetic and epigenetic alterations leading to a block in differentiation and accumulation of leukemic blasts in blood and bone marrow. Non-random chromosomal abnormalities (e.g., deletions, translocations, monosomies) are identified in approximately 55% of all adult de novo AML patients. However, approximately half of AML diagnoses are associated with a normal karyotype and highly variable disease outcomes. The discovery and application of advanced molecular techniques, have allowed for the identification of recurrent molecular abnormalities in acute myeloid leukemia (AML) that have revolutionized our understanding of the genetic landscape of the disease.