| Literature DB >> 24530230 |
Francesca Micci1, Ludmila Gorunova2, Sonia Gatius3, Xavier Matias-Guiu4, Ben Davidson5, Sverre Heim6, Ioannis Panagopoulos7.
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.Entities:
Keywords: Endometrial stromal sarcoma; Fusion gene; MEAF6/PHF1; RNA sequencing; Reverse transcriptase-PCR
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Year: 2014 PMID： 24530230 DOI： 10.1016/j.canlet.2014.01.030
Source DB: PubMed Journal: Cancer Lett ISSN： 0304-3835 Impact factor: 8.679