Analysis of GNAS1 mutations in myxoid soft tissue and bone tumors

The aim of this study was to characterize the prevalence of GNAS1 mutations in various tumor types, including intramuscular myxomas, fibrous dysplasias, and other myxoid tumors and implications for malignant transformation. PCR and direct sequencing were applied to analyze GNAS1 mutation status using genomic DNA isolated from 97 formalin-fixed and paraffin-embedded samples, including 63 intramuscular myxomas, 19 various myxoid lesions, 8 cases of sporadically occurring fibrous dysplasia, and 7 cases of atrial myxoma. Mutations of GNAS1 were detected in 23 out of 63 (36.5%) intramuscular myxoma patients, with mutational hotspots R201H and R201C being equally affected. GNAS1 mutations in codon 201 were found in 5 out of 8 fibrous dysplasias (62.5%), while no mutations of GNAS1 were detected in the other studied entities, including atrial myxomas. GNAS1 mutation analysis has diagnostic value in screening patients with intramuscular myxoma and patients with fibrous dysplasia.