ArticlePloS one2012
Whole-transcriptome sequencing identifies novel IRF2BP2-CDX1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 94 citations in OpenAlex.
- Chondrosarcoma: A comprehensive review of tumor biology, clinical behavior, and therapeutic advances.Cancer treatment reviews · 2026Review
- First Report of Primary Mesenchymal Chondrosarcoma of the Urinary Bladder.International journal of surgical pathology · 2026Article
- Activity of chemotherapy in mesenchymal chondrosarcoma: a multicentre retrospective analysis within the Italian Sarcoma Group network.ESMO open · 2026Article
- Advances in the Molecular Biology of Chondrosarcoma for Drug Discovery and Precision Medicine.Cancers · 2025Review
- Article
- Reappraisal of soft tissue myoepithelial tumors by DNA methylation profiling reveals an epigenetically distinct group of mostly fusion-driven neoplasms.Virchows Archiv : an international journal of pathology · 2025Article
- Primary osseous tumors of the orbit.Virchows Archiv : an international journal of pathology · 2025Review
- SPOP point mutations regulate substrate preference and affect its function.Cell death & disease · 2024Article
- Mesenchymal Chondrosarcoma of the Mandible, a Big Dilemma: Report of a Rare Case in Mesenchymal Chondrosarcoma of the Mandible-Report of a Case With Discussion of Diagnostic and Therapeutic Dilemmas.Case reports in dentistry · 2024Article
- Case report: A mesenchymal chondrosarcoma with alternativePathology oncology research : POR · 2024Article
- Extensive analysis of 59 sarcoma-related fusion genes identified pazopanib as a potential inhibitor to COL1A1-PDGFB fusion gene.Cancer science · 2023Article
- Review
- Article
- Clinical diagnostic and radiographic features of a primary intradural spinal chondrosarcoma in a young adult: illustrative case.Journal of neurosurgery. Case lessons · 2023Article
- [Variant acute promyelocytic leukemia with IRF2BP2-RARA fusion gene: a case report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2023Review
- A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!Genes, chromosomes & cancer · 2023Article
- Biology and Management of High-Grade Chondrosarcoma: An Update on Targets and Treatment Options.International journal of molecular sciences · 2023Review
- Molecular testing of soft tissue tumors.Diagnostic cytopathology · 2023Review
- Mesenchymal chondrosarcoma of the head and neck with HEY1::NCOA2 fusion: A clinicopathologic and molecular study of 13 cases with emphasis on diagnostic pitfalls.Genes, chromosomes & cancer · 2022Article
- The rare IRF2BP2-RARA fusion in acute promyelocytic leukemia.Annals of hematology · 2022Article
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.