New classification and approaches to the treatment of schwannomatosis

Makashova ES, Zolotova SV, Absalyamova OV, Galkin MV, Petrokovskaya AV, Kozlov AV, Golanov AV. New classification and approaches to the treatment of schwannomatosis. Burdenko's Journal of Neurosurgery. 2023;87(5):104‑109. (In Russ., In Engl.)
https://doi.org/10.17116/neiro202387051104

Подписка 2025 Журнал «Вопросы нейрохирургии» имени Н.Н. Бурденко (Burdenko's Journal of Neurosurgery)

Использование инфографики авторами научных работ

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Abstract:

Schwannomatoses is a new classification unit for all the hereditary diseases caused by chromosome 22 damage followed by multiple benign neoplasms of the peripheral and central nervous system. Schwannomatosis occurs as a result of damage to different genes: NF2, SMARCB1, LZRT1, loss of heterozygosity of the long arm of chromosome 22. Nevertheless, clinical manifestations are similar. Molecular diagnostics not only confirms the diagnosis, but also predicts the course of disease. Thus, the most severe clinical manifestations are observed in patients with violation of semantic sequences and reading frame shift in exons 2—13 of the NF2 gene. A more favorable course with less number of tumors is observed in patients with somatic mosaicism. Stereotactic irradiation and surgery are the main treatment options for schwannomatosis. However, there is evidence of effective targeted therapy with bevacizumab (inhibitor of vascular endothelial growth factor). Bevacizumab is used in patients with bilateral vestibular schwannomas and high risk of hearing loss, as well as for intramedullary tumor growth control.

Keywords:

neurofibromatosis type II

schwannomatosis

schwannomas

Authors:

Makashova E.S.

Burdenko Neurosurgical Center;
Loginov Moscow Clinical Research Practical Center

ORCID: 0000-0003-2441-8818

Zolotova S.V.

Burdenko Neurosurgical Center

ORCID: 0000-0001-8893-3830

Absalyamova O.V.

Burdenko Neurosurgical Center

ORCID: 0000-0002-9062-6212

Galkin M.V.

Burdenko National Medical Research Center for Neurosurgery

SPIN RSCI: 7745-6695
Scopus AuthorID: 36099071200
ResearcherID: AAH-4783-2019
ORCID: 0000-0002-1436-0010

Petrokovskaya A.V.

Sechenov First Moscow State Medical University

ORCID: 0000-0002-5857-7115

Kozlov A.V.

Burdenko Neurosurgical Center;
Andijan State Medical Institute

ORCID: 0000-0002-3181-6470

Golanov A.V.

Burdenko Neurosurgical Center;
Russian Medical Academy of Continuous Professional Education

ORCID: 0000-0002-0976-4547

Received:

01.12.2022

Accepted:

13.07.2023

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References:

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