title: 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.
authors: 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.
authors: Francesca
authors: F
authors: Micci
authors: 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.
authors: Ludmila
authors: L
authors: Gorunova
authors: 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.
authors: Sonia
authors: S
authors: Gatius
authors: 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.
authors: Xavier
authors: X
authors: Matias-Guiu
authors: 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.
authors: Ben
authors: B
authors: Davidson
authors: 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.
authors: Sverre
authors: S
authors: Heim
authors: 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.
authors: Ioannis
authors: I
authors: Panagopoulos
mesh_terms: D000368:Aged; D001483:Base Sequence; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D050939:Gene Fusion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008875:Middle Aged; D063146:Polycomb-Group Proteins; D016133:Polymerase Chain Reaction; D012509:Sarcoma / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D059467:Transcriptome
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; C112309:PHF1 protein, human; D063146:Polycomb-Group Proteins; D014157:Transcription Factors
keywords: Endometrial stromal sarcoma; Fusion gene; MEAF6/PHF1; RNA sequencing; Reverse transcriptase-PCR