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

Francesca Micci; Ludmila Gorunova; Sonia Gatius; Xavier Matias-Guiu; Ben Davidson; Sverre Heim; Ioannis Panagopoulos

doi:10.1016/j.canlet.2014.01.030

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.

Authors

Francesca Micci¹, Ludmila Gorunova², Sonia Gatius³, Xavier Matias-Guiu⁴, Ben Davidson⁵, Sverre Heim⁶, Ioannis Panagopoulos⁷

Affiliations

¹ Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; Centre for Cancer Biomedicine, University of Oslo, Oslo, Norway. Electronic address: francesca.micci@labmed.uio.no.
² Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; Centre for Cancer Biomedicine, University of Oslo, Oslo, Norway. Electronic address: ludmila.gorunova@rr-research.no.
³ Department of Pathology and Molecular Genetics and Research Laboratory, Hospital Universitari Arnau de Vilanova, University of Lleida, IRBLLEIDA, Lleida, Spain. Electronic address: sdesonia@hotmail.com.
⁴ Department of Pathology and Molecular Genetics and Research Laboratory, Hospital Universitari Arnau de Vilanova, University of Lleida, IRBLLEIDA, Lleida, Spain. Electronic address: fjmatiasguiu.lleida.ics@gencat.cat.
⁵ Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; Faculty of Medicine, University of Oslo, Oslo, Norway. Electronic address: ben.davidson@medisin.uio.no.
⁶ Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; Centre for Cancer Biomedicine, University of Oslo, Oslo, Norway; Faculty of Medicine, University of Oslo, Oslo, Norway. Electronic address: sverre.heim@medisin.uio.no.
⁷ Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; Centre for Cancer Biomedicine, University of Oslo, Oslo, Norway. Electronic address: ioannis.panagopoulos@rr-research.no.

PMID: 24530230
DOI: 10.1016/j.canlet.2014.01.030

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.

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

Substances

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