This single-institution series of 29 cases highlights that nodular fasciitis, although a benign and self-limited myofibroblastic proliferation, frequently presents with atypical clinical, radiologic, and histologic features that mimic sarcoma—particularly in deep or unusual locations. Two-thirds of cases were initially non-specific, often prompting concern for malignancy, and required molecular confirmation. USP6 rearrangements were identified in essentially all challenging cases, with next-generation sequencing (NGS) proving especially valuable when FISH was inconclusive. The study emphasizes integrating morphology with molecular diagnostics to avoid misdiagnosis and overtreatment while expanding recognition of atypical presentations and rare USP6 fusion variants.
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Molecular Testing Improves Nodular Fasciitis Diagnosis
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