Role of molecular genetic factors in formation of the clinical type of neurofibromatosis type 2
- 作者: Karandasheva K.1, Makashova E.2,3, Ageeva F.1, Anoshkin K.1, Sparber P.1, Borovikov A.1, Vasiluev P.1, Pashchenko M.1, Tanas A.1, Strelnikov V.1
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隶属关系:
- Research Centre for Medical Genetics
- Burdenko National Medical Research Center of Neurosurgery
- Loginov Moscow Clinical Scientific Center
- 期: 卷 60, 编号 2 (2024)
- 页面: 78-88
- 栏目: ГЕНЕТИКА ЧЕЛОВЕКА
- URL: https://journals.rcsi.science/0016-6758/article/view/259171
- DOI: https://doi.org/10.31857/S0016675824020087
- EDN: https://elibrary.ru/DQQBCD
- ID: 259171
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详细
Neurofibromatosis type 2 is a hereditary disease with predisposition to the development of multiple tumors of the central and peripheral nervous system. The disease is characterized by significant variability in the clinical picture; the number of neoplasms, their location and growth rate largely determine the severity of the course. However, assessing the rate of tumor growth requires the availability of a consistent series of instrumental studies conducted within a certain time range, which is not always available at the time of initial treatment. In this study, based on quantitative (age of onset, age of examination) and qualitative (large number of intracranial tumors, large number of spinal tumors, severity of neurological symptoms, mosaic status of the genetic variant) characteristics, an alternative classification of clinical subtypes of neurofibromatosis type 2 was developed. We have revealed statistically significant differences (p-value = 0.037) in the representation of Halliday prognostic classes between the groups identified using the proposed classification which allows us to suggest the possibility of integrating this approach into clinical practice.
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作者简介
K. Karandasheva
Research Centre for Medical Genetics
编辑信件的主要联系方式.
Email: vstrel@list.ru
俄罗斯联邦, Moscow, 115522
E. Makashova
Burdenko National Medical Research Center of Neurosurgery; Loginov Moscow Clinical Scientific Center
Email: vstrel@list.ru
俄罗斯联邦, Moscow, 125047; Moscow, 111123
F. Ageeva
Research Centre for Medical Genetics
Email: vstrel@list.ru
俄罗斯联邦, Moscow, 115522
K. Anoshkin
Research Centre for Medical Genetics
Email: vstrel@list.ru
俄罗斯联邦, Moscow, 115522
P. Sparber
Research Centre for Medical Genetics
Email: vstrel@list.ru
俄罗斯联邦, Moscow, 115522
A. Borovikov
Research Centre for Medical Genetics
Email: vstrel@list.ru
俄罗斯联邦, Moscow, 115522
P. Vasiluev
Research Centre for Medical Genetics
Email: vstrel@list.ru
俄罗斯联邦, Moscow, 115522
M. Pashchenko
Research Centre for Medical Genetics
Email: vstrel@list.ru
俄罗斯联邦, Moscow, 115522
A. Tanas
Research Centre for Medical Genetics
Email: vstrel@list.ru
俄罗斯联邦, Moscow, 115522
V. Strelnikov
Research Centre for Medical Genetics
Email: vstrel@list.ru
俄罗斯联邦, Moscow, 115522
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