MEAF6/PHF1 is a recurrent gene fusion in endometrial stromal sarcoma

Cancer Lett. 2014 May 28;347(1):75-8. doi: 10.1016/j.canlet.2014.01.030. Epub 2014 Feb 11.


The chimeric transcripts described in endometrial stromal sarcomas (ESS) are JAZF1/SUZ12, YWHAE/FAM22, ZC3H7/BCOR, MBTD1/CXorf67, and recombinations of PHF1 with JAZF1, EPC1, and MEAF6. The MEAF6/PHF1 fusion had hitherto been identified in only one tumor. We present two more ESS with MEAF6/PHF1 detected by transcriptome sequencing (case 1) and RT-PCR (case 2), proving that this fusion is recurrent in ESS. The transcript of both cases was an in-frame fusion between exon 5 of MEAF6 and exon 2 of PHF1. Both genes are involved in epigenetic modification, and this may well be their main pathogenetic theme also in ESS tumorigenesis.

Keywords: Endometrial stromal sarcoma; Fusion gene; MEAF6/PHF1; RNA sequencing; Reverse transcriptase-PCR.

Publication types

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

MeSH terms

  • Aged
  • Base Sequence
  • DNA Primers
  • DNA-Binding Proteins / genetics*
  • Endometrial Neoplasms / genetics*
  • Female
  • Gene Fusion*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Middle Aged
  • Polycomb-Group Proteins
  • Polymerase Chain Reaction
  • Sarcoma / genetics*
  • Transcription Factors / genetics*
  • Transcriptome


  • DNA Primers
  • DNA-Binding Proteins
  • PHF1 protein, human
  • Polycomb-Group Proteins
  • Transcription Factors