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Critical Reviews™ in Oncogenesis

ISSN Print: 0893-9675
ISSN Online: 2162-6448

Critical Reviews™ in Oncogenesis

DOI: 10.1615/CritRevOncog.v16.i1-2.80
pages 77-91

RUNX1 Mutations in Clonal Myeloid Disorders: From Conventional Cytogenetics to Next Generation Sequencing, A Story 40 Years in the Making

James K. Mangan
Department of Internal Medicine, Division of Hematology-Oncology and the Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania
Nancy A. Speck
Abramson Family Cancer Research Institute and Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania


Translocations and mutations in the core binding factor genes, RUNX1 or CBFB, are found in acute myeloid and lymphocytic leukemia, therapy-related myeloid leukemia, myelodysplastic syndrome, chronic myelomonocytic leukemia, and in familial platelet disorder with predisposition to acute myeloid leukemia. Here we review the biochemical and biological properties of the normal Runx1 protein, discuss the nature of RUNX1 mutations in myeloid leukemia, their prognostic significance, and the mutations that cooperate or co-exist with them in these various diseases.