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Updated: Jun 19, 2026
An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
Published on: October 10, 2025
Ganglioneuroblastoma associated with neurofibromatosis type 1: a case report with a systematic review
Qi Zhang1, Song Su1, Guifu Geng2
1Department of Neurology, Jinan Children's Hospital (Children's Hospital Affiliated to Shandong University), Jinan, Shandong, China.
Introduction:
Neurofibromatosis type 1 (NF1) is a hereditary disorder characterized by variable clinical manifestations and a predisposition to tumor development. The occurrence of ganglioneuroblastoma(GNB) in patients with NF1 is rare.
Methods:
Here, we report a pediatric case and present a review of the relevant literature.
Results:
A 3-year-old girl presented with progressively enlarging café-au-lait macules since birth and intermittent back and lumbar discomfort. Imaging revealed a mediastinal mass, which was completely resected. Histopathological examination confirmed GNB, and the patient was subsequently referred for adjuvant chemotherapy. Targeted genetic testing identified a heterozygous deletion spanning exons 1-58 of the NF1 gene. Although several cases of NF1 associated with GNB have been reported, genotypic data remain limited.
Discussion:
The variant identified in this case has not been previously described, thereby expanding the phenotypic and genotypic spectrum of NF1-related tumors.
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