Molecular Characterization and Its Clinical Application of GNAS Variants in Intramuscular Myxoma

Key Points

• The aim is to assess the clinical relevance of GNAS variants in diagnosing intramuscular myxoma (IM).
• Used fragment signal analysis to distinguish between intramuscular myxoma and low-grade myxofibrosarcoma (LGMFS).
• Evaluated the presence of GNAS R201C/R201H variants in tumor samples.
• Fragment signal analysis effectively differentiates IM from LGMFS.
• Absence of GNAS R201C/R201H variants does not exclude a diagnosis of IM.