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