Journal
CANCER LETTERS
Volume 347, Issue 1, Pages 75-78Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.canlet.2014.01.030
Keywords
MEAF6/PHF1; Fusion gene; Endometrial stromal sarcoma; RNA sequencing; Reverse transcriptase-PCR
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Funding
- Regional Ethics Committee (REK) [S-07474a]
- institutional review board
- Norwegian Radium Hospital.
- Regional Ethics Committee for Medical and Health Research Ethics South-East [2010/1389A]
- Norwegian Cancer Society
- South-Eastern Norway Regional Health Authority
- Centre for Cancer Biomedicine (CCB), and Xarxa catalana de Bancs de Tumors [2009SGR794, RD12/0036/0013, RD09/ 0076/00059]
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The chimeric transcripts described in endometrial stromal sarcomas (ESS) are JAZF1/SUZ12, YWHAE/FAM22, ZC3H7/BCOR, MBTD1/CXorf67, and recombinations of PHF1 with JAZFl, 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. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
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