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

Authors
  • Micci, Francesca
  • Gorunova, Ludmila
  • Gatius, Sonia
  • Matias-Guiu, Xavier
  • Davidson, Ben
  • Heim, Sverre
  • Panagopoulos, Ioannis1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 3, 4, 11, 6
  • 1 Section for Cancer Cytogenetics
  • 2 Institute for Cancer Genetics and Informatics
  • 3 The Norwegian Radium Hospital
  • 4 Oslo University Hospital
  • 5 Centre for Cancer Biomedicine
  • 6 University of Oslo
  • 7 Department of Pathology and Molecular Genetics and Research Laboratory
  • 8 Hospital Universitari Arnau de Vilanova
  • 9 University of Lleida
  • 10 Department of Pathology
  • 11 Faculty of Medicine
Type
Published Article
Journal
Cancer Letters
Publisher
Elsevier
Publication Date
Jan 01, 2014
Accepted Date
Jan 24, 2014
Volume
347
Issue
1
Pages
75–78
Identifiers
DOI: 10.1016/j.canlet.2014.01.030
Source
Elsevier
Keywords
License
Unknown

Abstract

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.

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