Whole-Transcriptome Sequencing Identifies Novel IRF2BP2-CDX1 Fusion Gene Brought about by Translocation t(1;5)(q42;q32) in Mesenchymal Chondrosarcoma
作者： Kaja B. Nyquist , Ioannis Panagopoulos , Jim Thorsen , Lisbeth Haugom , Ludmila Gorunova
DOI: 10.1371/JOURNAL.PONE.0049705
关键词: Mesenchymal chondrosarcoma 、 Fusion gene 、 Gene 、 IRF2BP2 Gene 、 Biology 、 Chromosomal translocation 、 Genetics 、 Genetic heterogeneity 、 Transcriptome 、 Chondrosarcoma 、 General Biochemistry, Genetics and Molecular Biology 、 General Agricultural and Biological Sciences 、 General Medicine
摘要: Mesenchymal chondrosarcomas (MCs) account for 3–10% of primary chondrosarcomas. The cytogenetic literature includes only ten such tumours with karyotypic information and no specific aberrations have been identified. Using a purely molecular genetic approach HEY1-NCOA2 fusion gene was recently detected in 10 15 investigated MCs. probably arises through intrachromosomal rearrangement chromosome arm 8 q. We report new case MC showing t(1;5)(q42;q32) as the sole aberration. Through FISH whole transcriptome sequencing analysis we found novel between IRF2BP2 transcription factor CDX1 arising from translocation. IRF2BP2-CDX1 has not formerly described human neoplasia. In our hospital’s archives three more cases were found, examined them looking supposedly common fusion, finding it all but t(1;5) fusion. This demonstrates that heterogeneity exists mesenchymal chondrosarcoma.
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