RUNX1 mutations in clonal myeloid disorders: from conventional cytogenetics to next generation sequencing, a story 40 years in the making

Crit Rev Oncog. 2011;16(1-2):77-91. doi: 10.1615/critrevoncog.v16.i1-2.80.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Core Binding Factor Alpha 2 Subunit / chemistry
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Core Binding Factor Alpha 2 Subunit / physiology
  • Hematopoiesis / physiology
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Mice
  • Mutation*
  • Myelodysplastic Syndromes / genetics*
  • Protein Conformation

Substances

  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human