Molecular Testing Improves Nodular Fasciitis Diagnosis

USP6 analysis helps resolve uncertainty in atypical soft-tissue lesions

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Molecular testing identified USP6 rearrangements in all 29 patients with nodular fasciitis, enhancing diagnostic accuracy.
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66% of cases initially did not raise suspicion for nodular fasciitis and presented with alarming histologic features.
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Fluorescence in situ hybridization detected USP6 rearrangements in 83% of tested cases, while next-generation sequencing resolved inconclusive results.
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Atypical fusion partners were identified in three cases, with patients averaging 23 years old, younger than those with common fusions.
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The study underscores the importance of molecular diagnostics in diagnosing soft-tissue lesions lacking classic nodular fasciitis features.

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