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- W2057022013 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." @default.
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- W2057022013 date "2014-05-01" @default.
- W2057022013 modified "2023-10-17" @default.
- W2057022013 title "MEAF6/PHF1 is a recurrent gene fusion in endometrial stromal sarcoma" @default.
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- W2057022013 doi "https://doi.org/10.1016/j.canlet.2014.01.030" @default.
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