RUNX1 point mutations potentially identify a subset of early immature T-cell acute lymphoblastic leukaemia that may originate from differentiated T-cells

Gene. 2014 Jul 15;545(1):111-6. doi: 10.1016/j.gene.2014.04.074. Epub 2014 May 2.

Abstract

The RUNX1/AML1 gene is among the most frequently mutated genes in human leukaemia. However, its association with T-cell acute lymphoblastic leukaemia (T-ALL) remains poorly understood. In order to examine RUNX1 point mutations in T-ALL, we conducted an amplicon-based deep sequencing in 65 Southeast Asian childhood patients and 20 T-ALL cell lines, and detected RUNX1 mutations in 6 patients (9.2%) and 5 cell lines (25%). Interestingly, RUNX1-mutated T-ALL cases seem to constitute a subset of early immature T-ALL that may originate from differentiated T-cells. This result provides a deeper insight into the mechanistic basis for leukaemogenesis.

Keywords: AML1; ETP-ALL; Early immature T-ALL; RUNX1; TCRγ deletion.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Cell Differentiation / genetics*
  • Cell Line, Tumor
  • Child
  • Child, Preschool
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Female
  • Genes, T-Cell Receptor gamma
  • Humans
  • Male
  • Point Mutation*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / pathology*
  • Sequence Deletion
  • Young Adult

Substances

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