title: Intermediate grade osteosarcoma and chondrosarcoma arising in an osteochondroma. A case report of a patient with hereditary multiple exostoses.
abstract: A 40 year old man with hereditary multiple exostoses (HME), affecting predominantly his left proximal tibia, distal femur, and proximal femur, underwent resection of an osteochondroma near the trochanter major of his left proximal femur because of malignant transformation of the cartilaginous cap towards secondary peripheral chondrosarcoma. The patient had a history of a papillary thyroid carcinoma four years previously. At examination of the resected specimen, a third malignant tumour, an intermediate grade osteosarcoma (grade II/IV), was found in the osseous stalk of the osteochondroma. Although no mutations were found in the EXT1 and EXT2 genes, the genes involved in HME, or in exons 5-8 of the p53 gene, the development of three malignancies before the age of 40 suggests that this patient is genetically prone to malignant transformation.
authors.affiliation: Department of Pathology, Leiden University Medical Center, PO Box 9600, L1-Q, 2300 RC Leiden, The Netherlands.
authors.forename: J V M G
authors.initials: JV
authors.lastname: Bovée
authors.forename: R J B
authors.initials: RJ
authors.lastname: Sakkers
authors.forename: M J A
authors.initials: MJ
authors.lastname: Geirnaerdt
authors.forename: A H M
authors.initials: AH
authors.lastname: Taminiau
authors.forename: P C W
authors.initials: PC
authors.lastname: Hogendoorn
mesh_terms: D000328:Adult; D001859:Bone Neoplasms / Q000235:genetics*; D002813:Chondrosarcoma / Q000235:genetics*; D004252:DNA Mutational Analysis; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D006801:Humans; D008297:Male; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D012516:Osteosarcoma / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D016159:Tumor Suppressor Protein p53 / Q000032:analysis; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: D011506:Proteins; D016159:Tumor Suppressor Protein p53; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2