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

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.

journal_name

Cancer Lett

journal_title

Cancer letters

authors

Micci F,Gorunova L,Gatius S,Matias-Guiu X,Davidson B,Heim S,Panagopoulos I

doi

10.1016/j.canlet.2014.01.030

subject

Has Abstract

pub_date

2014-05-28 00:00:00

pages

75-8

issue

1

eissn

0304-3835

issn

1872-7980

pii

S0304-3835(14)00068-8

journal_volume

347

pub_type

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