osteochondroma

Digital case (Digital slides)

 HPC:396 : Osteochondroma

Cytogenetics

 loss of distal 8q (11793371)

Predisposition

 multiple osteochondromas (or hereditary multiple exostoses (HME) or osteochnondromatosis)

• type 1 (MIM.133700): EXT1 germline mutations
• type 2 (MIM.133701): EXT2 germline mutations

References

 Tallini G, Dorfman H, Brys P, Dal Cin P, De Wever I, Fletcher CD, Jonson K, Mandahl N, Mertens F, Mitelman F, Rosai J, Rydholm A, Samson I, Sciot R, Van den Berghe H, Vanni R, Willen H. Correlation between clinicopathological features and karyotype in 100 cartilaginous and chordoid tumours. A report from the Chromosomes and Morphology (CHAMP) Collaborative Study Group. J Pathol. 2002 Feb;196(2):194-203. PMID: 11793371