ArticleFrontiers in oncology2026
Case Report: Clinical case of a giant plexiform neurofibroma of the liver in a patient with deletion of exon 1 of the NF1 gene.
Article in Frontiers in oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene, including exon deletions, which are associated with various phenotypes and plexiform neurofibromas. Plexiform neurofibromas are clinically observed in up to 30% (and up to 50% on MRI) of NF1 patients and may involve both external and internal tissues, with a risk of malignant transformation to malignant peripheral nerve sheath tumors (MPNST). This report presents a rare case of a large plexiform neurofibroma in an adolescent male with NF1, involving the hepatic hilum and surrounding hepatic vessels. The patient, born in 2002, presented with multiple café-au-lait macules, cutaneous neurofibromas, axillary freckling, and headaches. Imaging studies, including 3-Tesla MRI and multislice CT, revealed a multinodular lesion extending along the hepatic vessels, around the gallbladder, the celiac trunk, and adjacent pancreatic and duodenal structures. Genetic testing confirmed a large deletion of an exon in the
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