Article
Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas.
Cancer genetics - 1 Mar 2015
Musso Nicolò, Caronia Francesco Paolo, Castorina Sergio, Lo Monte Attilio Ignazio, Barresi Vincenza, Condorelli Daniele Filippo
Abstract excerpt
Multiple osteochondromas (MO) is an autosomal-dominant skeletal disorder caused by mutations in the exostosin-1 (EXT1) or exostosin-2 (EXT2) genes. In this study, we report the analysis of the mutational status of the EXT2 gene in tumor samples derived from a patient affected by hereditary MO, documenting the somatic loss of the germline mutation in a giant chondrosarcoma and in a rapidly growing osteochondroma....
Topics
- Adult
- Bone Neoplasms
- Chondrosarcoma
- Chromosomes, Human, Pair 11
- DNA, Neoplasm
- Disease Progression
- Humans
- Loss of Heterozygosity
- Male
- Mutation
- N-Acetylglucosaminyltransferases
- Exostosin 2
- Exostosin 1