Detalle Publicación

ARTÍCULO
Integrating morphology and genetics in the diagnosis of cartilage tumors
Título de la revista: SURGICAL PATHOLOGY CLINICS
ISSN: 1875-9181
Volumen: 10
Número: 3
Páginas: 537 - 552
Fecha de publicación: 2017
Resumen:
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.