Ganglioneuroblastoma associated with neurofibromatosis type 1: a case report with a systematic review

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.