ArticleVirchows Archiv : an international journal of pathology2015
Isocitrate dehydrogenase 1 mutations (IDH1) and p16/CDKN2A copy number change in conventional chondrosarcomas.
Article in Virchows Archiv : an international journal of pathology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- A Systematic Review of Adjuvant Chemotherapy in Localized Dedifferentiated Chondrosarcoma.Current oncology (Toronto, Ont.) · 2024Pooled it
- MiRNA-based expression signatures in differential diagnosis of enchondroma and chondrosarcoma.Journal of bone oncology · 2026Article
- Expanding the Clinicopathologic Spectrum of EWSR1::SSX-Rearranged Sarcomas: Series of 11 Cases Including Osteosarcomas and a Novel EWSR1::SSX4 Fusion.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2026Article
- BCOR-Mutated Conventional and Dedifferentiated Chondrosarcoma: A Clinicopathologic Study.Genes, chromosomes & cancer · 2025Article
- Advances in the Molecular Biology of Chondrosarcoma for Drug Discovery and Precision Medicine.Cancers · 2025Review
- Establishment and characterization of TK-DDCS1: a novel IDH1 mutated dedifferentiated chondrosarcoma cell line.Human cell · 2025Article
- Targeting metastasis in paediatric bone sarcomas.Molecular cancer · 2025Review
- Advancing Systemic Therapy in Chondrosarcoma: New Horizons.Oncology and therapy · 2025Article
- Clinical insights into circulating free-DNA in patients with bone sarcomas and ewing sarcoma.Clinics (Sao Paulo, Brazil) · 2025Article
- Genetics and Molecular Pathogenesis of the Chondrosarcoma: A Review of the Literature.Current issues in molecular biology · 2024Review
- RNA-sequencing predicts a role of androgen receptor and aldehyde dehydrogenase 1A1 in osteosarcoma lung metastases.Oncogene · 2024Article
- Are IDH1 R132 Mutations Associated With Poor Prognosis in Patients With Chondrosarcoma of the Bone?Clinical orthopaedics and related research · 2024Article
- Clinico-Genomic Profiling of Conventional and Dedifferentiated Chondrosarcomas Reveals TP53 Mutation to Be Associated with Worse Outcomes.Clinical cancer research : an official journal of the American Association for Cancer Research · 2023Article
- IDH mutations in G2-3 conventional central bone chondrosarcoma: a mono institutional experience.BMC cancer · 2023Article
- Dedifferentiated Chondrosarcoma from Molecular Pathology to Current Treatment and Clinical Trials.Cancers · 2023Review
- Biology and Management of High-Grade Chondrosarcoma: An Update on Targets and Treatment Options.International journal of molecular sciences · 2023Review
- Circulating tumour DNA is a promising biomarker for risk stratification of central chondrosarcoma with IDH1/2 and GNAS mutations.Molecular oncology · 2021Article
- Review
- Dedifferentiated Central Chondrosarcoma: A Clinical, Histopathological, and Immunohistochemical Analysis of 57 Cases.Frontiers in medicine · 2021Article
- The epigenomics of sarcoma.Nature reviews. Cancer · 2020Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To determine whether IDH1 mutations are present in primary and relapsed (local and distal) conventional central chondrosarcomas; and secondly, to assess if loss of p16/CDKN2A is associated with tumour grade progression, 102 tumour samples from 37 patients, including material from presenting and relapse events, were assessed. All wild-type cases for IDH1 R132 substitutions were also tested for IDH2 R172 and R140 alterations. The primary tumour and the most recent relapse sample were tested for p16/CDKN2A by interphase fluorescence in situ hybridisation. An additional 120 central cartilaginous tumours from different patients were also tested for p16/CDKN2A copy number. The study shows that if an IDH1 mutation were detected in a primary central chondrosarcoma, it is always detected at the time of presentation, and the same mutation is detected in local recurrences and metastatic events. We show that p16/CDKN2A copy number variation occurs subsequent to the IDH1 mutation, and confirm that p16/CDKN2A copy number variation occurs in 75% of high grade central chondrosarcomas, and not in low grade cartilaginous tumours. Finally, p16/CDKN2A copy number variation is seen in both the IDH1 wild-type and mutant cartilaginous central tumours.
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