ArticleDiagnostic pathology2019
Identification of novel GNAS mutations in intramuscular myxoma using next-generation sequencing with single-molecule tagged molecular inversion probes.
Article in Diagnostic pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 19 citations in OpenAlex.
- Molecular Characterization and Its Clinical Application of GNAS Variants in Intramuscular Myxoma.Cancer medicine · 2026Article
- Intramuscular Myxoma: Results from the Largest European Single-Center Study-Clinical and Pathological Findings and Syndromal Associations.Diagnostics (Basel, Switzerland) · 2026Article
- Intramuscular Myxoma of the Penis: A Case Report.Cureus · 2026Article
- The role of molecular pathology in soft tissue tumor diagnosis: what the radiologist needs to know.Skeletal radiology · 2025Review
- Intramuscular Myxoma in the Vastus Medialis Muscle: A Case Report and Brief Review of the Literature.Journal of orthopaedic case reports · 2025Article
- Detection of PRKAR1A gene mutations in sporadic cardiac myxomas: a study of 24 cases.Virchows Archiv : an international journal of pathology · 2025Article
- The Role of Methylation Analysis in Distinguishing Cellular Myxoma from Low-Grade Myxofibrosarcoma.International journal of molecular sciences · 2024Article
- Genetic characterization of intramuscular myxomas.Pathology oncology research : POR · 2024Article
- Mazabraud's syndrome: A case report supported by molecular studies and review of the literature.Bone reports · 2023Article
- Surgical Treatment of Intramuscular Myxoma.Indian journal of orthopaedics · 2021Article
- Intramuscular myxoma of the deltoid muscle in a swimmer: A rare case report and literature review.Clinical case reports · 2019Article
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8 authors at 4 institutions in 2 countries.
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Abstract
backgroundIntramuscular myxoma (IM) is a hypocellular benign soft tissue neoplasm characterized by abundant myxoid stroma and occasional hypercellular areas. These tumors can, especially on biopsy material, be difficult to distinguish from low-grade fibromyxoid sarcoma or low-grade myxofibrosarcoma. GNAS mutations are frequently involved in IM, in contrast to these other malignant tumors. Therefore, sensitive molecular techniques for detection of GNAS aberrations in IM, which frequently yield low amounts of DNA due to poor cellularity, will be beneficial for differential diagnosis.
methodsIn our study, a total of 34 IM samples from 33 patients were analyzed for the presence of GNAS mutations, of which 29 samples were analyzed using a gene-specific TaqMan genotyping assay for the detection of GNAS hotspot mutations c.601C > T and c602G > A in IM, and 32 samples using a novel next generation sequencing (NGS)-based approach employing single-molecule tagged molecular inversion probes (smMIP) to identify mutations in exon 8 and 9 of GNAS. Results between the two assays were compared for their ability to detect GNAS mutations with high confidence.
resultsIn total, 23 of 34 samples were successfully analyzed with both techniques showing GNAS mutations in 12 out of 23 (52%) samples. The remaining 11 samples were analyzed with either TaqMan assay or smMIP assay only. The TaqMan assay revealed GNAS mutations in 16 out of 29 samples (55%), with six samples c.601C > T (p.R201C; 38%) and ten samples c.602G > A (p.R201H; 62%) missense mutations. The smMIP assay identified mutations in 16 out of 28 samples (57%), with five samples c.601C > T (p.R201C; 31%) and seven samples c.602G > A (p.R201H; 44%) missense mutations. In addition, four samples (25%) revealed novel IM-associated mutations, including c.601C > A (p.R201S), c.602G > T (p.R201L), c.602G > C (p.R201P) and c.680A > G (p.Q227R). Combining the results of both tests, 23 out of 34 sporadic IM samples (68%) showed a GNAS mutation.
conclusionsBoth the TaqMan and the smMIP assay a show a high degree of concordance in detecting GNAS hotspot mutations in IM with comparable sensitivity. However, since the NGS-based smMIP assay permits mutation detection in whole exons of GNAS, a broader range of GNAS mutations can be identified by the smMIP approach.
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