The neoplastic pathogenesis of solitary and multiple osteochondromas

D E Porter, A H Simpson

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Many theories of osteochondroma pathogenesis have been advanced. Genetic research into the inherited multiple form, hereditary multiple exostoses, has revealed a new family of tumour suppressor genes denoted EXT. Patterns of EXT gene mutation in hereditary multiple exostoses, in solitary and multiple osteochondromas, and in chondrosarcoma are analogous to those found in other tumour suppressor genes responsible for family cancer traits and associated malignancies. With one exception, most features of osteochondroma behaviour are comparable to those of benign neoplasms. The neoplastic pathogenesis of osteochondromas provides an alternative to the traditional 'skeletal dysplasia' theory to explain the growth disturbance associated with hereditary multiple exostoses. Recent studies on the physiological function of EXT genes are reviewed and implications for osteochondroma 'cell-of-origin' theories are discussed.

Original languageEnglish
Pages (from-to)119-25
Number of pages7
JournalThe Journal of Pathology
Issue number2
Publication statusPublished - Jun 1999

Keywords / Materials (for Non-textual outputs)

  • Bone Neoplasms
  • Cartilage
  • Chromosomes, Human, Pair 11
  • Chromosomes, Human, Pair 8
  • Epiphyses
  • Exostoses, Multiple Hereditary
  • Gene Deletion
  • Humans
  • N-Acetylglucosaminyltransferases
  • Osteochondroma
  • Proteins


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