RUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia

Mol Cells. 2020 Feb 29;43(2):139-144. doi: 10.14348/molcells.2020.0010.

Abstract

Somatic RUNX1 mutations are found in approximately 10% of patients with de novo acute myeloid leukemia (AML), but are more common in secondary forms of myelodysplastic syndrome (MDS) or AML. Particularly, this applies to MDS/AML developing from certain types of leukemia-prone inherited bone marrow failure syndromes. How these RUNX1 mutations contribute to the pathobiology of secondary MDS/AML is still unknown. This mini-review focusses on the role of RUNX1 mutations as the most common secondary leukemogenic hit in MDS/AML evolving from severe congenital neutropenia (SCN).

Keywords: RUNX1; leukemic progression; severe congenital neutropenia.

Publication types

  • Review

MeSH terms

  • Congenital Bone Marrow Failure Syndromes / etiology*
  • Congenital Bone Marrow Failure Syndromes / pathology
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Disease Progression
  • Humans
  • Leukemia, Myeloid, Acute / complications*
  • Leukemia, Myeloid, Acute / pathology
  • Mutation
  • Neutropenia / congenital*
  • Neutropenia / etiology
  • Neutropenia / pathology

Substances

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

Supplementary concepts

  • Neutropenia, Severe Congenital, Autosomal Recessive 3