Whole-transcriptome sequencing identifies novel IRF2BP2-CDX1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma.
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 dete...
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2012
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oai:doaj.org-article:98a9409dd9a44e368c00c0740b99fb502021-11-18T08:07:55ZWhole-transcriptome sequencing identifies novel IRF2BP2-CDX1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma.1932-620310.1371/journal.pone.0049705https://doaj.org/article/98a9409dd9a44e368c00c0740b99fb502012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23185413/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Mesenchymal 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.Kaja B NyquistIoannis PanagopoulosJim ThorsenLisbeth HaugomLudmila GorunovaBodil BjerkehagenAlexander FossåMarianne GuribyTorfinn NomeRagnhild A LotheRolf I SkotheimSverre HeimFrancesca MicciPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 11, p e49705 (2012) |
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Medicine R Science Q |
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Medicine R Science Q Kaja B Nyquist Ioannis Panagopoulos Jim Thorsen Lisbeth Haugom Ludmila Gorunova Bodil Bjerkehagen Alexander Fosså Marianne Guriby Torfinn Nome Ragnhild A Lothe Rolf I Skotheim Sverre Heim Francesca Micci Whole-transcriptome sequencing identifies novel IRF2BP2-CDX1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma. |
| description |
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. |
| format |
article |
| author |
Kaja B Nyquist Ioannis Panagopoulos Jim Thorsen Lisbeth Haugom Ludmila Gorunova Bodil Bjerkehagen Alexander Fosså Marianne Guriby Torfinn Nome Ragnhild A Lothe Rolf I Skotheim Sverre Heim Francesca Micci |
| author_facet |
Kaja B Nyquist Ioannis Panagopoulos Jim Thorsen Lisbeth Haugom Ludmila Gorunova Bodil Bjerkehagen Alexander Fosså Marianne Guriby Torfinn Nome Ragnhild A Lothe Rolf I Skotheim Sverre Heim Francesca Micci |
| author_sort |
Kaja B Nyquist |
| title |
Whole-transcriptome sequencing identifies novel IRF2BP2-CDX1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma. |
| title_short |
Whole-transcriptome sequencing identifies novel IRF2BP2-CDX1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma. |
| title_full |
Whole-transcriptome sequencing identifies novel IRF2BP2-CDX1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma. |
| title_fullStr |
Whole-transcriptome sequencing identifies novel IRF2BP2-CDX1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma. |
| title_full_unstemmed |
Whole-transcriptome sequencing identifies novel IRF2BP2-CDX1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma. |
| title_sort |
whole-transcriptome sequencing identifies novel irf2bp2-cdx1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2012 |
| url |
https://doaj.org/article/98a9409dd9a44e368c00c0740b99fb50 |
| work_keys_str_mv |
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