The <scp>PERISCOPE</scp> Cohort: A Retrospective Study of Clinicopathological and <scp>TRAF7</scp> Genetic Findings in Intraneural Perineurioma
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.
Authors
- Márcio de Mendonça Cardoso (ORCID: https://orcid.org/0000-0002-1330-018X)
- Eduardo Boiteux Uchôa Cavalcanti (ORCID: https://orcid.org/0000-0001-7763-7745)
- Alessandra de La Rocque Ferreira
- Eni Braga da Silveira
- Francineide Sadala De Souza
- Nilo Sakai Júnior
- Heveline Becker de Moura
- Graciela Maria Barbosa Lacerda Martins
Institutions
- Hospital de Base (BR)
- Sarah Network of Rehabilitation Hospitals (BR)
Publication Details
- Journal
- European Journal of Neurology
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1111/ene.70519
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00