| Literature DB >> 33445724 |
Suha Bachir1, Sanjit Shah2, Scott Shapiro3, Abigail Koehler4, Abdelkader Mahammedi5, Ravi N Samy3, Mario Zuccarello2, Elizabeth Schorry1, Soma Sengupta4.
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.Entities:
Keywords: meningiomas; neurofibromatosis type 2 (NF2); vestibular schwannomas
Mesh:
Year: 2021 PMID: 33445724 PMCID: PMC7828193 DOI: 10.3390/ijms22020690
Source DB: PubMed Journal: Int J Mol Sci ISSN: 1422-0067 Impact factor: 5.923