Outline

Bone-forming tumors
•Osteoid osteoma and osteoblastoma
•Osteosarcoma
Cartilage-forming tumors
•Osteochondroma
• Chondroma
• Chondrosarcoma
Osteochondroma
• also known as an exostosis
• benign, cartilage-capped tumor that is attached to the underlying
skeleton by a bony stalk
• most common benign bone tumor
• 85% are solitary
• usually first diagnosed in late adolescence and early adulthood
• develop only in bones of endochondral origin and arise from the
metaphysis near the growth plate of long tubular bones, especially
near the knee
Osteochondroma: Pathogenesis

Loss-of-function mutations in EXT1 or EXT2

Reduced or abnormal heparan sulfate

glycosaminoglycans
Prevents normal diffusion of a local regulator of
cartilage growth (Ihh)
Disrupted chondrocyte differentiation and local
skeletal development
Osteochondroma
Osteochondroma: Morphology
Osteochondroma: Clinical course
Chondroma
• Enchondromas- arise within the medullary cavity
• Juxtacortical chondromas – arise on the surface of bone
• most common of the intraosseous cartilage tumors
• usually diagnosed in individuals 20 to 50 years of age
• appear as solitary metaphyseal lesions of tubular bones of the hands and
feet

• Multiple enchondromas
• Ollier disease, and
• Maffucci syndrome - distinguished by presence of spindle cell hemangiomas
Chondroma: Pathogenesis

Mutation in IDH1 and IDH2 genes

Allows isocitrate dehydrogenase to acquire a new enzymatic

activity (synthesis of 2-hydroxyglutarate)

Oncometabolite 2-hydroxyglutarate interferes with regulation of

DNA methylation
Chondroma
Chondroma: Clinical course
• growth potential is limited
• rarely undergo sarcomatous transformation
• individuals with Maffucci syndrome are also at risk of developing
other types of malignancies, including ovarian carcinomas and brain
gliomas
Chondrosarcoma
• Histological subclassifications:
• Conventional (hyaline cartilage producing) - 90% of chondrosarcomas
• Central (intramedullary)
• Peripheral (juxtacortical)
• Clear cell
• Dedifferentiated
• Mesenchymal
• second most common malignant matrix-producing tumor of bone
• commonly arise in the axial skeleton (pelvis, shoulder, and ribs)
• distal extremities are rarely involved
Chondrosarcoma
Chondrosarcoma: Morphology
Chondrosarcoma: Clinical course
• usually present as painful, progressively enlarging masses
• most conventional chondrosarcomas are grade 1 tumors with 5-year
survival rates of 80% to 90% (versus 43% for grade 3 tumors)
• grade 1 chondrosarcomas rarely metastasize
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