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....
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