title: Similar cytogenetic findings in two synchronous secondary peripheral chondrosarcomas in a patient with multiple osteochondromas.
abstract: Secondary peripheral chondrosarcoma is a malignant chondroid tumor arising in a benign precursor, either an osteochondroma or an enchondroma. Multiple osteochondromas syndrome (MO) is an autosomal dominant skeletal disorder associated with bony growths in the form of osteochondromas that occasionally undergo malignant transformation to secondary peripheral chondrosarcomas. We describe the genetic examination of three secondary peripheral chondrosarcomas that had arisen synchronously from osteochondromas in a patient with MO by chromosome banding, high resolution chromosomal comparative genomic hybridization, and mutation analysis of the EXT1 and EXT2 genes. In two of the tumors (the third was not genetically informative), very similar chromosome abnormalities were found, indicating that they must somehow be part of the same neoplastic process in spite of being anatomically distinct.
authors.affiliation: Department of Genetics, Saint Savvas Hospital, Athens, Greece. tassoskyr@gmail.com
authors.forename: Anastasios I
authors.initials: AI
authors.lastname: Kyriazoglou
authors.forename: Efthimios
authors.initials: E
authors.lastname: Dimitriadis
authors.forename: Niki
authors.initials: N
authors.lastname: Arnogiannaki
authors.forename: Petter
authors.initials: P
authors.lastname: Brandal
authors.forename: Sverre
authors.initials: S
authors.lastname: Heim
authors.forename: Nikos
authors.initials: N
authors.lastname: Pandis
mesh_terms: D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002813:Chondrosarcoma / Q000235:genetics* / Q000556:secondary; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D005097:Exostoses, Multiple Hereditary / Q000235:genetics* / Q000473:pathology; D006801:Humans; D059785:Karyotype; D008297:Male; D008875:Middle Aged; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2