Transcriptome sequencing reveals CHD1 as a novel fusion partner of RUNX1 in acute myeloid leukemia with t(5;21)(q21;q22)

Mol Cancer. 2015 Apr 11:14:81. doi: 10.1186/s12943-015-0353-x.

Abstract

Background: RUNX1/AML1, which is a Runt family transcription factor critical for normal hematopoiesis, is frequently mutated or translocated in a broad spectrum of hematopoietic malignancies.

Findings: We describe here the case of a 54-year-old female developed acute myeloid leukemia with a t(5;21)(q21;q22). Transcriptome sequencing identified the chromodomain-helicase-DNA-binding protein 1 gene, CHD1, as a novel partner gene of RUNX1. Furthermore, the patient was found to harbor FLT3-ITD mutation, which might collaborated with CHD1-RUNX1 in the development of acute myeloid leukemia.

Conclusions: We have identified CHD1 as the RUNX1 fusion partner in acute myeloid leukemia with t(5;21)(q21;q22).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Breakpoints
  • Chromosomes, Human, Pair 21*
  • Chromosomes, Human, Pair 5*
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • DNA Helicases / genetics*
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Order
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myeloid, Acute / diagnosis
  • Leukemia, Myeloid, Acute / genetics*
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics*
  • Sequence Analysis, DNA
  • Transcriptome*
  • Translocation, Genetic*

Substances

  • Core Binding Factor Alpha 2 Subunit
  • DNA-Binding Proteins
  • Oncogene Proteins, Fusion
  • DNA Helicases
  • CHD1 protein, human