Significant association between FGFR1 mutation frequency and age in central giant cell granuloma

• Published in: Pathology 2023-04, Vol.55 (3), p.329-334
• Main Authors: Niada, Stefania, Varazzani, Andrea, Giannasi, Chiara, Fusco, Nicola, Armiraglio, Elisabetta, Di Bernardo, Andrea, Cherchi, Alessandro, Baj, Alessandro, Corradi, Domenico, Tafuni, Alessandro, Parafioriti, Antonina, Ferrero, Stefano, Bianchi, Andrea Edoardo, Giannì, Aldo Bruno, Poli, Tito, Latif, Farida, Brini, Anna Teresa
• Format: Article
• Language: English
• Subjects: Adolescent; age; Central giant cell granuloma; FGFR1; Granuloma, Giant Cell - diagnosis; Granuloma, Giant Cell - genetics; Granuloma, Giant Cell - pathology; Humans; Mutation; mutation frequency; Mutation Rate; Receptor, Fibroblast Growth Factor, Type 1 - genetics
• ISSN: 0031-3025; 1465-3931
• DOI: 10.1016/j.pathol.2022.09.003

Central giant cell granulomas (CGCG) are rare intraosseous osteolytic lesions of uncertain aetiology. Despite the benign nature of this neoplasia, the lesions can rapidly grow and become large, painful, invasive, and destructive. The identification of molecular drivers could help in the selection of targeted therapies for specific cases. TRPV4, KRAS and FGFR1 mutations have been associated with these lesions but no correlation between the mutations and patient features was observed so far. In this study, we analysed 17 CGCG cases of an Italian cohort and identified an interesting and significant (p=0.0021) correlation between FGFR1 mutations and age. In detail, FGFR1 mutations were observed frequently and exclusively in CGCG from young (