title: Whole-transcriptome sequencing identifies novel IRF2BP2-CDX1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma.
abstract: 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 a HEY1-NCOA2 fusion gene was recently detected in 10 of 15 investigated MCs. The fusion probably arises through intrachromosomal rearrangement of chromosome arm 8 q. We report a new case of MC showing a t(1;5)(q42;q32) as the sole karyotypic aberration. Through FISH and whole transcriptome sequencing analysis we found a novel fusion between the IRF2BP2 gene and the transcription factor CDX1 gene arising from the translocation. The IRF2BP2-CDX1 has not formerly been described in human neoplasia. In our hospital's archives three more cases of MC were found, and we examined them looking for the supposedly more common HEY1-NCOA2 fusion, finding it in all three tumours but not in the case showing t(1;5) and IRF2BP2-CDX1 gene fusion. This demonstrates that genetic heterogeneity exists in mesenchymal chondrosarcoma.
authors.affiliation: Section for Cancer Cytogenetics, Institute for Medical Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. k.b.nyquist@medisin.uio.no
authors.forename: Kaja B
authors.initials: KB
authors.lastname: Nyquist
authors.forename: Ioannis
authors.initials: I
authors.lastname: Panagopoulos
authors.forename: Jim
authors.initials: J
authors.lastname: Thorsen
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Haugom
authors.forename: Ludmila
authors.initials: L
authors.lastname: Gorunova
authors.forename: Bodil
authors.initials: B
authors.lastname: Bjerkehagen
authors.forename: Alexander
authors.initials: A
authors.lastname: Fosså
authors.forename: Marianne
authors.initials: M
authors.lastname: Guriby
authors.forename: Torfinn
authors.initials: T
authors.lastname: Nome
authors.forename: Ragnhild A
authors.initials: RA
authors.lastname: Lothe
authors.forename: Rolf I
authors.initials: RI
authors.lastname: Skotheim
authors.forename: Sverre
authors.initials: S
authors.lastname: Heim
authors.forename: Francesca
authors.initials: F
authors.lastname: Micci
mesh_terms: D000328:Adult; D001706:Biopsy; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D018211:Chondrosarcoma, Mesenchymal / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D022202:Chromosomes, Artificial, Bacterial; D004268:DNA-Binding Proteins; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008875:Middle Aged; D008957:Models, Genetic; D009687:Nuclear Proteins / Q000235:genetics*; D014157:Transcription Factors; D059467:Transcriptome
chemical_list: C491273:CDX1 protein, human; D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; C475082:IRF2BP2 protein, human; D009687:Nuclear Proteins; D014157:Transcription Factors