Genesis and biology of vestibular schwannomas.

作者: Pierre-Hugues Roche , Corinne Bouvier , Olivier Chinot , Dominique Figarella-Branger

DOI: 10.1159/000156556

关键词: EpigeneticsNeurofibromatosis type 2PathogenesisTumor suppressor geneMerlin (protein)EpigenesisPathologyBiologyGene mutationGeneCancer research

摘要: This review chapter is a synthesis of the recent literature about pathogenesis schwannomas with emphasis on vestibular (VSs). The cornerstone cellular transformation and proliferation Schwann cells toward has been attributed to nonexpression normal schwannomin/merlin (S/M) by these cells. understanding this mechanism gained from molecular genetic studies neurofibromatosis type 2 (NF2) patients, in whom mutations tumor suppressor gene (NF2 gene) was clearly identified. S/M NF2 product. Lack protein schwannoma cell due mutation 50% sporadic VSs. In other cases, epigenetic factors or activation protease cascade contribute ineffective S/M. exact interactions extracellular matrix, membranous glycoprotein cytoskeleton are not fully understood. However, it recognized that activate several pathways might regulate cell-cycle process, apoptosis intercellular interaction. Apart involvement pathway, authors potential role abnormalities growing supposed be involved VS. Understanding action regulation may provide basics for identifying therapeutic targets, which paramount importance better management patients.

参考文章(25)
John M. Lasak, D. Bradley Welling, Elena M. Akhmametyeva, Mariah Salloum, Long-Sheng Chang, Retinoblastoma–Cyclin‐Dependent Kinase Pathway Deregulation in Vestibular Schwannomas Laryngoscope. ,vol. 112, pp. 1555- 1561 ,(2002) , 10.1097/00005537-200209000-00004
Wladimir Wertelecki, Guy A. Rouleau, Duane W. Superneau, Lois W. Forehand, John P. Williams, Jonathan L. Haines, James F. Gusella, Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred. The New England Journal of Medicine. ,vol. 319, pp. 278- 283 ,(1988) , 10.1056/NEJM198808043190505
C Warren, Louise A James, Richard T Ramsden, A Wallace, Michael E Baser, JM Varley, DG1735326 Evans, None, Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation. Journal of Medical Genetics. ,vol. 40, pp. 802- 806 ,(2003) , 10.1136/JMG.40.11.802
Per Cay??-Thomasen, Lone Baandrup, Grete Krag Jacobsen, Jens Thomsen, Sven-Eric Stangerup, Immunohistochemical demonstration of vascular endothelial growth factor in vestibular schwannomas correlates to tumor growth rate. Laryngoscope. ,vol. 113, pp. 2129- 2134 ,(2003) , 10.1097/00005537-200312000-00014
S Tsukita, K Oishi, N Sato, J Sagara, A Kawai, S Tsukita, ERM family members as molecular linkers between the cell surface glycoprotein CD44 and actin-based cytoskeletons. Journal of Cell Biology. ,vol. 126, pp. 391- 401 ,(1994) , 10.1083/JCB.126.2.391
D. R. Scoles, V. D. Nguyen, Y. Qin, C.-X. Sun, H. Morrison, D. H. Gutmann, S.-M. Pulst, Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling Human Molecular Genetics. ,vol. 11, pp. 3179- 3189 ,(2002) , 10.1093/HMG/11.25.3179
KMM Schulze, CO Hanemann, HW Müller, H Hanenberg, Transduction of wild-type merlin into human schwannoma cells decreases schwannoma cell growth and induces apoptosis. Human Molecular Genetics. ,vol. 11, pp. 69- 76 ,(2002) , 10.1093/HMG/11.1.69
Luis Lassaletta, Pilar Gonzalez-Gomez, Dolores Arjona, Alberto Isla, M. Eva Alonso, Jesus Lomas, Jose M. de Campos, M. Josefa Bello, Jesus Vaquero, Juan A. Rey, Manuel Gutierrez, Jose L. Sarasa, CpG island methylation in sporadic and neurofibromatis type 2-associated schwannomas Clinical Cancer Research. ,vol. 9, pp. 5601- 5606 ,(2003)
Yoriyoshi Kimura, Hisashi Koga, Norie Araki, Norifumi Mugita, Naoyuki Fujita, Hideo Takeshima, Tohru Nishi, Tetsumori Yamashima, Takaomi C. Saido, Toshiki Yamasaki, Kouzo Moritake, Hideyuki Saya, Mitsuyoshi Nakao, The involvement of calpain-dependent proteolysis of the tumor suppressor NF2 (merlin) in schwannomas and meningiomas Nature Medicine. ,vol. 4, pp. 915- 922 ,(1998) , 10.1038/NM0898-915
Anita Murthy, Charo Gonzalez-Agosti, Etchell Cordero, Denise Pinney, Cecilia Candia, Frank Solomon, James Gusella, Vijaya Ramesh, NHE-RF, a Regulatory Cofactor for Na+-H+Exchange, Is a Common Interactor for Merlin and ERM (MERM) Proteins Journal of Biological Chemistry. ,vol. 273, pp. 1273- 1276 ,(1998) , 10.1074/JBC.273.3.1273