ArticleScientific reports2017
Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- The prevalence, diagnostic accuracy and genotype-phenotype correlation ofFrontiers in genetics · 2024Pooled it
- Integration of Clinical, Radiographic, Histologic, and Molecular Findings to Diagnose Craniofacial Fibrous Dysplasia.The Journal of craniofacial surgery · 2025Article
- Fibrous Dysplasia Involving Cranio-Facial Region Treated with Zolendronic Acid: A Single Institutional Experience and Review of Literature.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2024Article
- Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.Molecules (Basel, Switzerland) · 2024Article
- Benign tumors of the chest wall.Journal of thoracic disease · 2024Review
- Effect of decalcification protocols on immunohistochemistry and molecular analyses of bone samples.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- Co-administration of Systemic and Intralesional Zoledronic Acid in a Case of Fibrous Dysplasia: A Potentially Novel Therapy.Frontiers in endocrinology · 2019Article
- Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review.Virchows Archiv : an international journal of pathology · 2018Review
- A Minimally Invasive Novel Technique Using a New Device to Treat Proximal Femoral Cystic Lesions.Journal of orthopaedic case reportsArticle
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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