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

## TL;DR

A 36-year-old woman with neurofibromatosis type 1 developed both typical and rare unrelated tumors, highlighting the need for comprehensive genetic screening and interdisciplinary care.

## Contribution

This case report highlights the occurrence of multiple NF1-unrelated tumors in an NF1 patient, emphasizing the importance of broad tumor surveillance and genetic analysis.

## Key findings

- The patient had both NF1-related tumors (cutaneous and plexiform neurofibromas) and NF1-unrelated tumors (ganglioglioma, malignant teratoma, pheochromocytoma, vestibular schwannoma, meningioma).
- A pathogenic variant in the NF1 gene (c.2446C > T, p.Arg816*) was identified, but no pathogenic variant was found in the NF2 gene.
- The case underscores the need for comprehensive tumor screening and genetic analysis in NF1 patients to detect unrelated malignancies.

## Abstract

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.

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.

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.