USP6-FISH Negative Nodular Fasciitis: Benign Impostor of the Orbit.

Ophthalmic Plast Reconstr SurgSep 11, 2026 (epub)
Case ReportPathology (Anatomic & Clinical)Medical GeneticsRadiology (Diagnostic)OphthalmologyPediatrics

Kashviya Suri, April Lee, Neha Seth et al.

✦ AI-curated · Sources linked

Case in brief

An 11-year-old boy had a painless, progressively enlarging periorbital mass initially thought to be a dermoid cyst. Ultrasound was reassuring, but MRI showed an enhancing lesion concerning for neoplasm, leading to excision. Histology demonstrated a spindle-cell proliferation in myxoid stroma consistent with nodular fasciitis. USP6 fluorescence in situ hybridization was negative; further genomic analysis identified a USP6-PAFAH1B1 fusion, supporting the diagnosis.

What made this case unusual

Despite histology consistent with nodular fasciitis, USP6 FISH was negative; genomic analysis detected a USP6-PAFAH1B1 fusion.

Diagnostic / clinical pearl

A negative USP6 FISH result does not exclude nodular fasciitis when clinical and histologic findings support it; further genomic analysis may help establish the diagnosis.

Source

PubMed · PMID 42727019

Published in Ophthalmic Plast Reconstr Surg. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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