Korean J Otorhinolaryngol-Head Neck Surg.  2011 Jun;54(6):379-385. 10.3342/kjorl-hns.2011.54.6.379.

Merlin; NF2 Tumor Suppressor and Regulator of Receptor Distribution/Signaling

Affiliations
  • 1Department of Otolaryngology-Head and Neck Surgery, Gil Medical Center, Gachon University of Medicine & Science, Incheon, Korea. febent@gilhospital.com

Abstract

Acoustic tumor is the most common tumor originating from cerebellopontine angle. Acoustic tumor is benign and main origin of this tumor is vestibular nerve. This tumor arises in Schwann cell (SC) and is encapsulated. Recently, the tumor is called vestibular schwannoma (VS). VS is classified to two type by epidemiology, sporadic form and neurofibromatosis type 2 (NF2). NF2 is autosomal dominant inherent disorder. This tumor is characterized bilateral VS, brain tumors such as meningioma and ependymoma, and spinal or cranial nerve schwannoma. Genetic studies suggested that NF2 is caused by abnormality or mutation of NF2 gene in chromosome 22q12. Both of them are known to develop the tumor by mutation of NF2 gene. Merlin is the cytoskeletal protein product of the NF2 tumor suppressor gene that mediates cell to cell contact information to regulate SC proliferation and survival. And merlin is highly homologous to ERM proteins. Merlin function is regulated by its conformation, adopting an inactive, growth permissive state following serine 518 (S518) phosphorylation. In NF2 patients, the precise mechanisms of developing the VS are unclear. But, the abnormalities of merlin are confirmed by many studies. And now, a lot of research about merlin function is progressing. In this study, the author would introduce about merlin (structure, function, molecular pathway, tumorigenesis and regulation) which leads to VS and molecular studies about merlin, and suggest the future direction of research.

Keyword

Merin; Vestibular schwannoma; Neurofibromatosis 2

MeSH Terms

Brain Neoplasms
Cell Transformation, Neoplastic
Cerebellopontine Angle
Cranial Nerves
Ependymoma
Genes, Neurofibromatosis 2
Genes, Tumor Suppressor
Humans
Meningioma
Neurilemmoma
Neurofibromatosis 2
Neurofibromin 2
Neuroma, Acoustic
Phosphorylation
Proteins
Serine
Vestibular Nerve
Neurofibromin 2
Proteins
Serine
Full Text Links
  • KJORL-HN
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr