Molecular biology of familial and sporadic vestibular schwannomas: implications for novel therapeutics.
Vestibular schwannomas (VSs) are benign tumors arising from the sheath of cranial nerve VIII. The pathogenesis underlying most familial and sporadic VSs has been linked to a mutation in a single gene, the neurofibromin 2 (NF2) gene located on chromosome 22, band q11-13.1. In this review, the authors summarized what is known about the epidemiology of NF2 mutations and patients with VSs. The authors also discuss the function of the NF2 gene product, merlin, and describe the known and hypothetical effects of genetic mutations that lead to merlin dysfunction on a broad variety of cellular and histological end points. A better understanding of the molecular pathobiology of VSs may lead to novel therapeutics to augment current modalities of treatment while minimizing morbidity.
Sughrue
Michael E
ME
Department of Otolaryngology-Head and Neck Surgery, University of California at San Francisco, 94143-0350, USA.
Yeung
Andrea H
AH
Rutkowski
Martin J
MJ
Cheung
Steven W
SW
Parsa
Andrew T
AT
D006801:Humans; D009154:Mutation; D025581:Neurofibromin 2 / Q000235:genetics* / Q000378:metabolism; D009464:Neuroma, Acoustic / Q000235:genetics* / Q000378:metabolism
D025581:Neurofibromin 2