ArticleJournal of medical case reports2025
A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report.
Article in Journal of medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Malignant transformation in a patient with type 1 neurofibromatosis: A case report.The Journal of international medical research · 2026Article
- Giant cervicothoracic malignant peripheral nerve sheath tumor in neurofibromatosis type 1: a case report of multidisciplinary management and literature review.Frontiers in oncology · 2026Article
- Giant cervicothoracic malignant peripheral nerve sheath tumor in neurofibromatosis type I: a case report of integrated management with multimodal guidance.Frontiers in surgery · 2026Article
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4 authors.
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Abstract
backgroundNeurofibromatosis type 1 is an autosomal dominantly inherited disorder caused by pathogenic variants in the neurofibromatosis type 1 gene, resulting in a predisposition to multiple tumors. Typical neurofibromatosis type 1-associated tumors include cutaneous and plexiform neurofibromas, optic pathway gliomas, breast cancer, and malignant peripheral nerve sheath tumors. The aim of the study was to report a rare case with multiple neurofibromatosis type 1-unrelated tumors in addition to neurofibromatosis type 1-related ones. CASE PRESENTATION: A 36-year-old Caucasian female patient with neurofibromatosis type 1 had a rare tumor spectrum including ganglioglioma, malignant teratoma, pheochromocytoma, vestibular schwannoma, and meningioma in addition to typical neurofibromatosis type 1 tumors such as cutaneous and plexiform neurofibromas. A pathogenic variant in the neurofibromatosis type 1 gene (c.2446C > T, p.Arg816*) was identified in blood-derived DNA while no pathogenic variant was found in the neurofibromatosis type 2 gene.
conclusionThough rare, multiple neurofibromatosis type 1-unrelated tumors can develop in neurofibromatosis type 1 patients, which demands attention and interdisciplinary management. All related genes should be screened for potential pathogenic variants.
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