H2AFY is a novel fusion partner of MECOM in acute myeloid leukemia

Cancer Genet. 2018 Apr:222-223:9-12. doi: 10.1016/j.cancergen.2018.01.004. Epub 2018 Feb 17.

Abstract

The MECOM gene encoding a zinc finger protein that functions as a transcription factor, was located on chromosome 3q26, and rearrangements of MECOM often cause its overexpression in acute myeloid leukemia (AML). We identified H2AFY as a novel fusion gene partner of MECOM in an elderly male AML patient with cryptic 3q26 rearrangement using the whole transcriptome sequencing, who carried out abnormal karyotype of 46,XY,t(3;5)(q27;q31),add(14)(p11). We validated the existence of the unreported H2AFY-MECOM fusion gene by RT-PCR and Sanger DNA sequencing, and detected mutations of NRAS and BCOR in this patient. In addition, we found abnormally elevated expression of MECOM in this patient by quantitative-polymerase chain reaction (RQ-PCR). Further research is needed to investigate functional characterizations of this novel fusion in the development of AML.

Keywords: Acute myeloid leukemia; H2AFY; MECOM.

Publication types

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

MeSH terms

  • Aged
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Chromosomes, Human, Pair 3
  • Chromosomes, Human, Pair 5
  • Fatal Outcome
  • Gene Rearrangement
  • Granulocyte Colony-Stimulating Factor / therapeutic use
  • Histones / genetics*
  • Humans
  • Induction Chemotherapy
  • Karyotyping
  • Leukemia, Myeloid, Acute / drug therapy
  • Leukemia, Myeloid, Acute / genetics*
  • MDS1 and EVI1 Complex Locus Protein / genetics*
  • Male
  • Oncogene Proteins, Fusion / genetics*
  • Real-Time Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Translocation, Genetic

Substances

  • Histones
  • MACROH2A2 protein, human
  • MDS1 and EVI1 Complex Locus Protein
  • MECOM protein, human
  • Oncogene Proteins, Fusion
  • Granulocyte Colony-Stimulating Factor