ReviewVirchows Archiv : an international journal of pathology2020
Mutation-driven epigenetic alterations as a defining hallmark of central cartilaginous tumours, giant cell tumour of bone and chondroblastoma.
Review in Virchows Archiv : an international journal of pathology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Giant Cell Tumor of Bone: Biology, Pathophysiology, and Histopathology in the Era of H3F3A.Biomedicines · 2026Review
- Chondroblastoma-Like Chondroma of Soft Tissue Arising at the Outer Canthus: A Case Report.Case reports in ophthalmological medicine · 2025Article
- Review
- Comprehensive Insights into Chondroblastoma Metastasis: Metastatic Patterns and Therapeutic Approaches.Cancers · 2024Review
- Are IDH1 R132 Mutations Associated With Poor Prognosis in Patients With Chondrosarcoma of the Bone?Clinical orthopaedics and related research · 2024Article
- Images of giant cell tumor and chondroblastoma around the knee: retrospective analysis of 99 cases.Quantitative imaging in medicine and surgery · 2023Article
- Article
- Cell Biology of Giant Cell Tumour of Bone: Crosstalk between m/wt Nucleosome H3.3, Telomeres and Osteoclastogenesis.Cancers · 2021Review
- Chondroblastoma of the patella with secondary aneurysmal bone cyst, an easily misdiagnosed bone tumor:a case report with literature review.BMC musculoskeletal disorders · 2021Review
- The Potential Equivalents ofCancers · 2021Review
- Review
- The epigenomics of sarcoma.Nature reviews. Cancer · 2020Review
- Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.In vivo (Athens, Greece)Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recently, specific driver mutations were identified in chondroblastoma, giant cell tumour of bone and central cartilaginous tumours (specifically enchondroma and central chondrosarcoma), sharing the ability to induce genome-wide epigenetic alterations. In chondroblastoma and giant cell tumour of bone, the neoplastic mononuclear stromal-like cells frequently harbour specific point mutations in the genes encoding for histone H3.3 (H3F3A and H3F3B). The identification of these driver mutations has led to development of novel diagnostic tools to distinguish between chondroblastoma, giant cell tumour of bone and other giant cell containing tumours. From a biological perspective, these mutations induce several global and local alterations of the histone modification marks. Similar observations are made for central cartilaginous tumours, which frequently harbour specific point mutations in the metabolic enzymes IDH1 or IDH2. Besides an altered methylation pattern on histones, IDH mutations also induce a global DNA hypermethylation phenotype. In all of these tumour types, the mutation-driven epigenetic alterations lead to a highly altered transcriptome, resulting for instance in alterations in differentiation. These genomic alterations have diagnostic impact. Further research is needed to identify the genes and signalling pathways that are affected by the epigenetic alterations, which will hopefully lead to a better understanding of the biological mechanism underlying tumourigenesis.
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Registered trials
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.