Bone and cartilage tumors

2025-11-23   Paola Dal Cin, PhD 

1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)

Keywords
IDH1/IDH2 mutation ,GNAS mutation,MDM2 amplification,, HEY1 rearrangement, USP6 fusions, NFATC2 fusions

Classification

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 NumberPubmed IDLast YearTitleAuthors
1318385862020Molecular findings in maxillofacial bone tumours and its diagnostic value.Cleven AHG et al
2353129782022Update 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