title: An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera.
abstract: Endometrial stromal sarcomas (ESS) are rare malignancies, accounting for less than 10% of uterine sarcomas. Apart from the chromosomal rearrangement t(7;17)(p15;q21), which leads to the JAZF1/SUZ12 chimera, cytogenetic studies have shown that the chromosome band 6p21 is often rearranged in ESS. The translocation partners involved in the 6p21 rearrangements differ among the tumors, but chromosome 7 is involved in most aberrations. A JAZF1/PHF1 fusion gene was recently found in two tumors showing an exchange between 6p and 7p rearrangement. In the present study, we show that a low-grade ESS cell line carrying a der(7)t(6;7)(p21;p22) also harbors the a JAZF1/PHF1 fusion. In the fusion transcript, exon 3 of JAZF1 was fused with exon 2 of PHF1. At the junction, there was an insertion of 26 nucleotides, originating from intron 3 of JAZF1, thus maintaining an open reading frame of the chimeric transcript. The predicted 684-amino acid JAZF1/PHF1 chimeric protein retained one zinc finger domain from JAZF1 and the two zinc finger domains from PHF1, and its oncogenic mechanism should be similar to that of the JAZF1/SUZ12 protein. The present cell line constitutes an excellent model for further studies on the impact of the JAZF1/PHF1 fusion.
authors: Department of Clinical Genetics, Lund University Hospital, SE-221 85 Lund, Sweden. Ioannis.Panagopoulos@med.lu.se
authors: Ioannis
authors: I
authors: Panagopoulos
authors: Fredrik
authors: F
authors: Mertens
authors: Constance A
authors: CA
authors: Griffin
mesh_terms: D001483:Base Sequence; D056970:Co-Repressor Proteins; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D009363:Neoplasm Proteins / Q000235:genetics*; D063146:Polycomb-Group Proteins; D011993:Recombinant Fusion Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012509:Sarcoma / Q000235:genetics* / Q000473:pathology; D017154:Stromal Cells / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D056970:Co-Repressor Proteins; D017931:DNA Primers; D004268:DNA-Binding Proteins; C430460:JAZF1 protein, human; D009363:Neoplasm Proteins; C112309:PHF1 protein, human; D063146:Polycomb-Group Proteins; D011993:Recombinant Fusion Proteins; D014157:Transcription Factors