ArticleThe journal of pathology. Clinical research2015
Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.
Article in The journal of pathology. Clinical research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.
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Who cites it
72 citing papers in PubMed, 160 citations in OpenAlex.
- Article
- Chondroblastoma: the relationship between local invasiveness, recurrence, and histopathological features.Acta orthopaedica et traumatologica turcica · 2026Article
- H3.3G34W immunohistochemistry negative giant cell tumour of bone. Extended analysis of 35 such cases from a single institution in India.Virchows Archiv : an international journal of pathology · 2026Article
- Comprehensive Analysis of Genomic and Phenomic Data Reveals Context-Dependent Function of A20 (Cancers · 2026Article
- Giant Cell Tumor of the Sacrum: A Narrative Review of Management Challenges and Modalities.Healthcare (Basel, Switzerland) · 2026Review
- Giant Cell Tumor of Bone: Biology, Pathophysiology, and Histopathology in the Era of H3F3A.Biomedicines · 2026Review
- Double jeopardy: howFrontiers in cell and developmental biology · 2026Review
- Evaluation of Morphological and Immunohistochemical Prognostic Parameters in Giant Cell Tumor of Bone.Turk patoloji dergisi · 2026Article
- ComprehensiveFrontiers in cell and developmental biology · 2026Article
- Clinical pathological characteristics correlation ofTranslational cancer research · 2025Article
- Role of epigenetics in paediatric cancer pathogenesis & drug resistance.British journal of cancer · 2025Review
- Roles of osteoclasts in pathological conditions.Pathology international · 2025Review
- (B)On(e)-cohistones and the epigenetic alterations at the root of bone cancer.Cell death and differentiation · 2025Review
- Recent advances in molecular profiling of bone and soft tissue tumors.Skeletal radiology · 2024Review
- Giant cell tumor of bone and secondary osteoarthritis.Heliyon · 2024Review
- Review
- Giant Cell Tumor of Soft Tissue: An Updated Review.Journal of clinical medicine · 2024Review
- Treatment of Clival Giant Cell Tumor: A Case Report and Literature Review.Brain tumor research and treatment · 2024Article
- Diagnosis and monitoring denosumab therapy of giant cell tumors of bone: radiologic-pathologic correlation.Skeletal radiology · 2024Article
- DNA methylation profile discriminates sporadic giant cell granulomas of the jaws and cherubism from their giant cell-rich histological mimics.The journal of pathology. Clinical research · 2023Article
12 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Driver mutations in the two histone 3.3 (H3.3) genes, H3F3A and H3F3B, were recently identified by whole genome sequencing in 95% of chondroblastoma (CB) and by targeted gene sequencing in 92% of giant cell tumour of bone (GCT). Given the high prevalence of these driver mutations, it may be possible to utilise these alterations as diagnostic adjuncts in clinical practice. Here, we explored the spectrum of H3.3 mutations in a wide range and large number of bone tumours (n = 412) to determine if these alterations could be used to distinguish GCT from other osteoclast-rich tumours such as aneurysmal bone cyst, nonossifying fibroma, giant cell granuloma, and osteoclast-rich malignant bone tumours and others. In addition, we explored the driver landscape of GCT through whole genome, exome and targeted sequencing (14 gene panel). We found that H3.3 mutations, namely mutations of glycine 34 in H3F3A, occur in 96% of GCT. We did not find additional driver mutations in GCT, including mutations in IDH1, IDH2, USP6, TP53. The genomes of GCT exhibited few somatic mutations, akin to the picture seen in CB. Overall our observations suggest that the presence of H3F3A p.Gly34 mutations does not entirely exclude malignancy in osteoclast-rich tumours. However, H3F3A p.Gly34 mutations appear to be an almost essential feature of GCT that will aid pathological evaluation of bone tumours, especially when confronted with small needle core biopsies. In the absence of H3F3A p.Gly34 mutations, a diagnosis of GCT should be made with caution.
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