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Review
, 16 (1-2), 77-91

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

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Review

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

James K Mangan et al. Crit Rev Oncog.

Abstract

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.

Figures

Figure 1
Figure 1
Schematic diagram of Runx1 and AML1-ETO. White/black represent sequences from Runx1, and gold from ETO. TAD, transactivation domain ; NHR1-4, nervy homology domains 1–4.

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