Update of molecular pathology in cartilage tumors
10.3760/cma.j.cn112151-20250205-00071
- VernacularTitle:软骨性肿瘤的临床病理及分子诊断进展
- Author:
Yanli LUO
1
;
Likun ZHANG
1
;
Zhiyan LIU
1
Author Information
1. 上海交通大学医学院附属第六人民医院病理科，上海 200233
- Publication Type:Journal Article
- Keywords:
Cartilage;
Tumor;
Molecular sequence data
- From:
Chinese Journal of Pathology
2025;54(6):562-567
- CountryChina
- Language:Chinese
-
Abstract:
Cartilage tumors are a group of mesenchymal neoplasms characterized by tumor cells that produce cartilage matrix.The molecular pathology of cartilage tumors, as outlined in the 5th edition WHO classification, has been significantly updated.Key updates include: isocitrate dehydrogenase 1/2 mutations in enchondoma and chondrosarcoma, H3F3B mutations in chondroblastoma, NCOA2 rearrangements in mesenchymal chondrosarcoma, and GRM1 gene fusion and promoter replacement are associated with chondromyxoid fibroma, etc.Since these molecular abnormalities serve as specific diagnostic and differential diagnostic markers, this article focuses on recent advances in the molecular characterization of cartilage tumors.
