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

被引:57
|
作者
Bachir, Suha [1 ]
Shah, Sanjit [2 ]
Shapiro, Scott [3 ]
Koehler, Abigail [4 ]
Mahammedi, Abdelkader [5 ]
Samy, Ravi N. [3 ]
Zuccarello, Mario [2 ]
Schorry, Elizabeth [1 ]
Sengupta, Soma [4 ]
机构
[1] Cincinnati Childrens Hosp, Dept Genet, Cincinnati, OH 45229 USA
[2] Univ Cincinnati, Dept Neurosurg, Cincinnati, OH 45267 USA
[3] Univ Cincinnati, Dept Otolaryngol, Cincinnati, OH 45267 USA
[4] Univ Cincinnati, Dept Neurol, Cincinnati, OH 45267 USA
[5] Univ Cincinnati, Dept Radiol, Cincinnati, OH 45267 USA
关键词
neurofibromatosis type 2 (NF2); meningiomas; vestibular schwannomas; TUMOR-SUPPRESSOR MERLIN; DIAGNOSTIC-CRITERIA; GENOMIC ANALYSIS; GENE; MUTATIONS; CLASSIFICATION; SEVERITY; BINDING; PROTEIN; AKT1;
D O I
10.3390/ijms22020690
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
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页码:1 / 12
页数:12
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