ArticleThe Journal of pathology2022
Genomic profiling identifies genes and pathways dysregulated by HEY1-NCOA2 fusion and shines a light on mesenchymal chondrosarcoma tumorigenesis.
Article in The Journal of pathology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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16 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- CT and MRI findings of intracranial extraskeletal mesenchymal and myxoid chondrosarcoma: report of 3 rare cases and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Pooled it
- Mesenchymal Chondrosarcoma Presenting as Atypical Brown-Sequard Syndrome.Annals of the Child Neurology Society · 2026Article
- Cancer-associated fusion transcripts: mechanisms, functional roles, and clinical implications.Clinical and experimental medicine · 2026Review
- Primary extraskeletal mesenchymal chondrosarcoma of the colon: a rare case report.Gastroenterology report · 2026Article
- Maxillary mesenchymal chondrosarcoma harboringFrontiers in pediatrics · 2026Article
- Clinicopathologic and Molecular Genetic Features of Spindle Cell Rhabdomyosarcoma Harboring ZFP64::NCOA2/3 Fusions: A Series of 14 Cases.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Article
- Real-World Data Analysis of Genomic Alterations Detected by a Dual DNA-RNA Comprehensive Genomic Profiling Test.Cancer science · 2025Article
- Orbital mesenchymal chondrosarcoma and its specific fusion gene HEY1-NCOA2.BMC ophthalmology · 2025Article
- Chondrosarcoma: New Molecular Insights, Challenges in Near-Patient Preclinical Modeling, and Therapeutic Approaches.International journal of molecular sciences · 2025Review
- Decoding cancer etiology with cellular reprogramming.Current opinion in genetics & development · 2025Review
- p160 nuclear receptor coactivator family members and their role in rare fusion‑driven neoplasms (Review).Oncology letters · 2024Review
- Case report: A mesenchymal chondrosarcoma with alternativePathology oncology research : POR · 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
- Review
- Article
- Metastatic mesenchymal chondrosarcoma showing a sustained response to cabozantinib: A case report.Frontiers in oncology · 2022Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mesenchymal chondrosarcoma is a rare, high-grade, primitive mesenchymal tumor. It accounts for around 2-10% of all chondrosarcomas and mainly affects adolescents and young adults. We previously described the HEY1-NCOA2 as a recurrent gene fusion in mesenchymal chondrosarcoma, an important breakthrough for characterizing this disease; however, little study had been done to characterize the fusion protein functionally, in large part due to a lack of suitable models for evaluating the impact of HEY1-NCOA2 expression in the appropriate cellular context. We used iPSC-derived mesenchymal stem cells (iPSC-MSCs), which can differentiate into chondrocytes, and generated stable transduced iPSC-MSCs with inducible expression of HEY1-NCOA2 fusion protein, wildtype HEY1 or wildtype NCOA2. We next comprehensively analyzed both the DNA binding properties and transcriptional impact of HEY1-NCOA2 expression by integrating genome-wide chromatin immunoprecipitation sequencing (ChIP-seq) and expression profiling (RNA-seq). We demonstrated that HEY1-NCOA2 fusion protein preferentially binds to promoter regions of canonical HEY1 targets, resulting in transactivation of HEY1 targets, and significantly enhances cell proliferation. Intriguingly, we identified that both PDGFB and PDGFRA were directly targeted and upregulated by HEY1-NCOA2; and the fusion protein, but not wildtype HEY1 or NCOA2, dramatically increased the level of phospho-AKT (Ser473). Our findings provide a rationale for exploring PDGF/PI3K/AKT inhibition in treating mesenchymal chondrosarcoma. © 2022 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.
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