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Guanine nucleotide-binding protein/α-subunit ( GNAS ) mutations are involved in fibrous dysplasia (FD) pathogenesis. Here, we analyzed  GNAS  mutations in FD which were performed by pyrosequencing DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissue. The mutation detection rate was determined in FD specimens with and without decalcification.  GNAS  mutation was identified in 28 cases out of 87 FDs (32.18%) [p.R201C ( N  = 14) and p.R201H ( N  = 14)].  GNAS  mutation was more likely to occur in polyostotic FD (7/28, 25.0%); FD without  GNAS  mutation was mostly monostotic form (56/59, 94.9%,  P  = 0.011). The G > A (R201H) mutation was more frequent in polyostotic FD (6/14 patients, 42.9%) than the C > T (R201C) mutation (1/14, 7.1%) ( P  = 0.077). We divided the FD cases into two subgroups: tissue specimens that were not decalcified ( N  = 35, 40.2%), and tissue specimens that were decalcified ( N  = 52, 59.8%).  GNAS  mutation was more frequently identified in FD specimens that were not subjected to decalcification (23/35, 65.7%) than in FD specimens that were decalcified (5/52, 9.6%) ( P  = 0.001). In conclusion, mutation analysis of  GNAS  by pyrosequencing has diagnostic value in FFPE tissue of patients with FD, especially in specimens that were not decalcified. The R201H substitution mutation of  GNAS  may be involved in the pathogenesis of polyostotic FD.

scientific reports

Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification