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  • Title: Integrating Morphology and Genetics in the Diagnosis of Cartilage Tumors.
    Author: de Andrea CE, San-Julian M, Bovée JVMG.
    Journal: Surg Pathol Clin; 2017 Sep; 10(3):537-552. PubMed ID: 28797501.
    Abstract:
    Cartilage-forming tumors of bone are a heterogeneous group of tumors with different molecular mechanisms involved. Enchondromas are benign hyaline cartilage-forming tumors of medullary bone caused by mutations in IDH1 or IDH2. Osteochondromas are benign cartilage-capped bony projections at the surface of bone. IDH mutations are also found in dedifferentiated and periosteal chondrosarcoma. A recurrent HEY1-NCOA2 fusion characterizes mesenchymal chondrosarcoma. Molecular changes are increasingly used to improve diagnostic accuracy in chondrosarcomas. Detection of IDH mutations or HEY1-NCOA2 fusions has already proved their immense value, especially on small biopsy specimens or in case of unusual presentation.
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