Bone and cartilage tumors
2025-11-23 Paola Dal Cin, PhD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Keywords
IDH1/IDH2 mutation ,GNAS mutation,MDM2 amplification,, HEY1 rearrangement, USP6 fusions, NFATC2 fusionsClassification
Definition
The diagnosis of bone and cartilage tumors is often challenging for radiologists as well as pathologists, and the integration of new molecular markers may not only increase the diagnostic accuracy but potentially also identify new druggable targets. 1,2
Fibro-osseous tumor and dysplasias, benign maxillofacial bone and cartilage tumors and malignant maxillofacial bone and cartilage tumors are included in this category . Although molecular data are scarce in most maxillofacial bone tumors, some useful molecular markers are emerging e.g., IDH1/IDH2 and GNAS mutations for chondrosarcoma and fibrous dysplasia, respectively; MDM2 amplifications for the diagnosis of low-grade osteosarcoma, HEY1 rearrangement n case of mesenchymal chondrosarcoma , USP6 fusions in aneurysmal bone cysts, and NFATC2 fusions in a subgroup of rhabdomyosarcoma affecting mainly the mandible of young adults. 1,2
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 31838586 | 2020 | Molecular findings in maxillofacial bone tumours and its diagnostic value. | Cleven AHG et al |
| 2 | 35312978 | 2022 | Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Odontogenic and Maxillofacial Bone Tumours. | Vered M et al |
Citation
Paola Dal Cin, PhD
Bone and cartilage tumors
Atlas Genet Cytogenet Oncol Haematol. 2025-11-23
Online version: http://atlasgeneticsoncology.org/solid-tumor/209346/bone-and-cartilage-tumors
