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Updated: May 26, 2026

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
Published on: October 10, 2025
An histologically atypical NF-type 1 patient with a new pathogenic mutation
Giovanni Bianco1, Giuseppe Greco, Manila Antonelli
1Dipartimento di Neuroscienze, Sezione Neurologia e Neurofisiologia Clinica, Azienda Ospedaliera-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 53100, Siena, Ital. gatsby@hotmail.it
Abstract:
Here we describe a case of Neurofibromatosis type 1 (NF1) associated with an atypical histiocytic lesion and a new pathogenic mutation. The genetic analysis revealed an heterozygous mutation in the 5' splice site of intron 32, 6,084+1G → T. Histopathological findings are compatible with juvenile xanthogranuloma. The new, not already described, splicing mutation, is possibly partly responsible of the association between NF1 and the histiocitic lesion.
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