- Researchers reviewed 29 cases of nodular fasciitis diagnosed over 9 years at a single institution.
- Nineteen cases showed nonspecific clinical, radiologic, or histologic features that raised concern for sarcoma or other tumors.
- Fluorescence in situ hybridization detected USP6 rearrangements in 15 of 18 diagnostically challenging cases tested.
- Next-generation sequencing identified USP6 gene fusions in all four cases subsequently tested after negative or inconclusive fluorescence results.
- Rare USP6 fusion partners identified included MIR22HG, CTNNB1, and SRSF3.
- Immunohistochemistry findings were nonspecific and mainly helped exclude malignant diagnoses rather than confirm nodular fasciitis.
- Researchers emphasized that negative fluorescence testing should not exclude nodular fasciitis when histologic findings remain suggestive.
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