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Vol.69 (2023) >

Please use this identifier to cite or link to this item: http://ir.fmu.ac.jp/dspace/handle/123456789/2156

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Title: Current progress in genomics and targeted therapies for neurofibromatosis type 2
Authors: Hiruta, Ryo
Saito, Kiyoshi
Bakhit, Mudathir
Fujii, Masazumi
Affiliation: 脳神経外科学講座
Source title: Fukushima Journal of Medical Science
Volume: 69
Issue: 2
Start page: 95
End page: 103
Issue Date: 2023
Abstract: Neurofibromatosis type 2 (NF2), a multiple neoplasia syndrome, is a manifestation of an impaired expression of the merlin protein, exerting inhibitory effects on cell proliferation signals due to abnormalities of the NF2 gene located on chromosome 22. About half of patients inherit a germline mutation from a parent, and nearly 60% of de novo NF2 patients are estimated to have somatic mosaicism. The development of technical methods to detect NF2 gene mutation, including targeted deep sequencing from multiple tissues, improved the diagnostic rate of mosaic NF2. With improved understanding of genetics and pathogenesis, the diagnostic criteria for NF2 were updated to assist in identifying and diagnosing NF2 at an earlier stage. The understanding of cell signaling pathways interacting with merlin has led to the development of molecular-targeted therapies. Currently, several translational studies are searching for possible therapeutic agents targeting VEGF or VEGF receptors. Bevacizumab, an anti-VEGF monoclonal antibody, is widely used in many clinical trials aiming for hearing improvement or tumor volume control. Currently, a randomized, double-masked trial to assess bevacizumab is underway. In this randomized control trial, 12 other Japanese institutions joined the principal investigators in the clinical trial originating at Fukushima Medical University. In this review, we will be discussing the latest research developments regarding NF2 pathophysiology, including molecular biology, diagnosis, and novel therapeutics.
Publisher: The Fukushima Society of Medical Science
Publisher (Alternative foam): 福島医学会
language: eng
URI: http://ir.fmu.ac.jp/dspace/handle/123456789/2156
Full text URL: http://ir.fmu.ac.jp/dspace/bitstream/123456789/2156/1/FksmJMedSci_69_p95.pdf
ISSN: 0016-2590
DOI: 10.5387/fms.2023-05
PubMed ID: 37468280
Related Page: https://doi.org/10.5387/fms.2023-05
Rights: © 2023 The Fukushima Society of Medical Science. This article is licensed under a Creative Commons [Attribution-NonCommercial-ShareAlike 4.0 International] license.
Rights: https://creativecommons.org/licenses/by-nc-sa/4.0/
Appears in Collections:Vol.69 (2023)

Files in This Item:

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FksmJMedSci_69_p95.pdf1.47 MBAdobe PDFDownload

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