The PERISCOPE Cohort: A Retrospective Study of Clinicopathological and TRAF7 Genetic Findings in Intraneural Perineurioma.
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BACKGROUND: Intraneural perineurioma (INP) is a rare, benign peripheral nerve sheath tumour that typically presents in adolescence or early adulthood as a slowly progressive, motor-predominant mononeuropathy or plexopathy. Although its clinicoradiological and histopathological features are well characterised, the genetic basis remains incompletely defined. METHODS: We retrospectively analysed 10 patients with histologically confirmed INP diagnosed between February 2015 and December 2024. Demographic and clinical data, MRI/MR neurography findings and histopathology (immunohistochemistry and electron microscopy) were analysed. Targeted Sanger sequencing of TRAF7 exons 17-18 (WD40 domain) was performed. Interphase FISH with an EWSR1 (22q12) probe was performed on archival FFPE tissue in a subset. RESULTS: All patients exhibited progressive motor deficits, with at least one muscle group graded ≤ 2 on the MRC scale. Sensory symptoms were present in 8/10 and pain in 4/10. MRI demonstrated fusiform nerve enlargement and homogeneous gadolinium enhancement in all cases, with T2 hyperintensity in 9/10. A pathogenic TRAF7 p.His521Arg variant was identified in 2/9 evaluable tumours (22.2%). Tendon transfer was performed in 7/10 patients as a reconstructive strategy to improve motor function, resulting in heterogeneous functional outcomes. INTERPRETATION: The MRI triad of fusiform enlargement, T2 hyperintensity and homogeneous enhancement strongly supports INP diagnosis and may obviate biopsy in typical cases. Our hotspot-limited assay detected TRAF7 mutations in only 22.2%, underscoring methodological limitations and probable genetic heterogeneity. Despite an indolent imaging appearance, INP frequently causes severe functional impairment requiring reconstructive surgery. Early recognition, structured functional monitoring and risk-adapted intervention are essential to optimise outcomes.