ArticleApplied immunohistochemistry & molecular morphology : AIMM2016
GNAS Mutations in Fibrous Dysplasia: A Comparative Study of Standard Sequencing and Locked Nucleic Acid PCR Sequencing on Decalcified and Nondecalcified Formalin-fixed Paraffin-embedded Tissues.
Article in Applied immunohistochemistry & molecular morphology : AIMM, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- The prevalence, diagnostic accuracy and genotype-phenotype correlation ofFrontiers in genetics · 2024Pooled it
- Acute Enlargement of a Frontal Calvarial Lesion in Polyostotic Fibrous Dysplasia Associated with McCune-Albright Syndrome: A Case Report.Journal of neurological surgery reports · 2026Article
- Fibrosarcoma of bone masquerading as fibrous dysplasia: diagnostic pitfall and molecular correlates of aggressive behavior.Journal of pathology and translational medicine · 2026Article
- Mccune-Albright syndrome managed with multiple osteotomies, massive curettage, intramedullary nailing, and bone grafting: a case report.International journal of surgery case reports · 2026Article
- In vitro characterization of osteoblasts from craniofacial fibrous dysplasia of bone and their impact on bone homeostasis.Orphanet journal of rare diseases · 2026Article
- Article
- Distal phalanx desmoplastic fibroma of the hallux: a unique case mimicking a glomus tumor.BMC musculoskeletal disorders · 2025Article
- DNA Mutational and Copy Number Variation Profiling of Primary Craniofacial Osteosarcomas by Next-Generation Sequencing.Head and neck pathology · 2024Article
- Fibrous dysplasia with aneurysmal bone cyst-like change occurring in pediatric orbit: case report and literature review.Oral and maxillofacial surgery · 2024Review
- Pediatric orbital lesions: bony and traumatic lesions.Pediatric radiology · 2024Article
- Benign tumors of the chest wall.Journal of thoracic disease · 2024Review
- Genetic characterization of intramuscular myxomas.Pathology oncology research : POR · 2024Article
- Genomic Profiling of the Craniofacial Ossifying Fibroma by Next-Generation Sequencing.Head and neck pathology · 2023Article
- Malignant Brain and Spinal Tumors Originating from Bone or Cartilage.Advances in experimental medicine and biology · 2023Article
- Fibrocartilaginous Dysplasia - A Report of Five Cases with Review of Literature.Journal of orthopaedic case reports · 2022Article
- Adenomyoepithelial tumors of the breast: molecular underpinnings of a rare entity.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- Soft Tissue Special Issue: Gnathic Fibro-Osseous Lesions and Osteosarcoma.Head and neck pathology · 2020Review
- Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.Orphanet journal of rare diseases · 2019Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
It is well known that fibrous dysplasia (FD) is characterized by the presence of activating mutations involving G-nucleotide binding protein-α subunit (GNAS) involving codon R201 and rarely codon 227 with a mutation frequency between 45% and 93%. Herein, we investigate the sensitivity of detection of GNAS mutations in exons 8 and 9 using a standard and a highly sensitive locked nucleic acid polymerase chain reaction (LNA-PCR) sequencing in 52 cases of FD. In view of the recent report of GNAS mutations in a small number of low-grade osteosarcomas, we also tested in addition 12 cases of low-grade osteosarcomas. GNAS exon 8 mutations p.R201H (31%), p.R201C (15%), and p.R201S (2%) were identified in 50% of FD cases. LNA-PCR sequencing identified only 1 positive case within the mutation negative cases tested by standard PCR and Sanger sequencing. No mutations were identified in any of the low-grade osteosarcomas by standard and LNA-PCR sequencing. There was no association between age, site, size, specimen type, and mutational status. No exon 9 or codon 227 mutations were identified in any of tested cases. There was a significant difference in the sensitivity of the assay between decalcified and nondecalcified FDs (31% vs. 70%, P=0.002). LNA-PCR has no added value in enhancing detection sensitivity for GNAS mutations in FD. In addition to decalcification, innate somatic mosaicism contributes to the decreased sensitivity in mutation detection.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.