Work

A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report

Year: 2025

Type: article

Abstract: BACKGROUND: Neurofibromatosis 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. CONCLUSION: Though 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.

Source: Journal of Medical Case Reports

DOI: 10.1186/s13256-025-05599-z

Authors: Tabea I. Hartung, Qais Karimi, Lan Kluwe, Said C. Farschtschi

Institution: University Medical Center Hamburg-Eppendorf

Language: English

Topic: Neurofibromatosis and Schwannoma Cases

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,890