Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis

Abstract

Patients diagnosed with neurofibromatosis type 2 (NF2) are extremely likely to develop meningiomas, in addition to vestibular schwannomas. Meningiomas are a common primary brain tumor; many NF2 patients suffer from multiple meningiomas. In NF2, patients have mutations in the NF2 gene, specifically with loss of function in a tumor-suppressor protein that has a number of synonymous names, including: Merlin, Neurofibromin 2, and schwannomin. Merlin is a 70 kDa protein that has 10 different isoforms. The Hippo Tumor Suppressor pathway is regulated upstream by Merlin. This pathway is critical in regulating cell proliferation and apoptosis, characteristics that are important for tumor progression. Mutations of the NF2 gene are strongly associated with NF2 diagnosis, leading to benign proliferative conditions such as vestibular schwannomas and meningiomas. Unfortunately, even though these tumors are benign, they are associated with significant morbidity and the potential for early mortality. In this review, we aim to encompass meningiomas and vestibular schwannomas as they pertain to NF2 by assessing molecular genetics, common tumor types, and tumor pathogenesis.

Oculomotor nerve palsy in neurofibromatosis type 2

“…Meningiomas are a common primary brain tumor, and many NF2 patients suffer from multiple meningiomas. Unfortunately, even though these tumors are benign, they are associated with significant morbidity and the potential for early mortality [ 7 ]. In the case of Lan WC et al., NF2 patients may present with an isolated, solitary cutaneous schwannoma with no other associated clinical findings [ 8 ].…”

Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

“…Вестибулярные шванномы -доброкачественные опухоли, возникающие из шванновских клеток вестибулярной порции VIII нерва. Клиническая симптоматика, ассоциированная с прогрессией вестибулярных шванном, включает тиннитус, ухудшение слуха и развитие вестибулярной атаксии [31,32].…”

The role of gut microbiota in patients with benign and malignant brain tumors: a pilot study

“…It is well-known that the etiology and progression of brain tumors depend on mutation and genetic factors. For example, neurofibromatosis type II (NF2) gene loss can contribute to meningioma formation [ 3 ]. Moreover, microRNAs play a significant role in the biological processes of several tumors, and therefore, could be viewed as molecular biomarkers for benign meningioma and malignant glioma [ 4 , 5 ].…”