New classification and approaches to the treatment of schwannomatosis

E.S. Makashova

Burdenko Neurosurgical Center;
Loginov Moscow Clinical Research Practical Center

ORCID: 0000-0003-2441-8818

S.V. Zolotova

Burdenko Neurosurgical Center

ORCID: 0000-0001-8893-3830

O.V. Absalyamova

Burdenko Neurosurgical Center

ORCID: 0000-0002-9062-6212

M.V. Galkin

Burdenko National Medical Research Center for Neurosurgery

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

A.V. Petrokovskaya

Sechenov First Moscow State Medical University

ORCID: 0000-0002-5857-7115

A.V. Kozlov

Burdenko Neurosurgical Center;
Andijan State Medical Institute

ORCID: 0000-0002-3181-6470

A.V. Golanov

Burdenko Neurosurgical Center;
Russian Medical Academy of Continuous Professional Education

ORCID: 0000-0002-0976-4547

New classification and approaches to the treatment of schwannomatosis

Authors:

E.S. Makashova, S.V. Zolotova, O.V. Absalyamova, M.V. Galkin, A.V. Petrokovskaya, A.V. Kozlov, A.V. Golanov

More about the authors

Journal: Burdenko's Journal of Neurosurgery. 2023;87(5): 104‑109

DOI: 10.17116/neiro202387051104

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To cite this article:

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

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Minimally invasive removal of dumbbell shaped schwannomas with transforaminal lumbar fusion: a retrospective study with a minimum 3-year follow-up. Burdenko's Journal of Neurosurgery. 2024;(2):47-53

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:

E.S. Makashova

Burdenko Neurosurgical Center;
Loginov Moscow Clinical Research Practical Center

ORCID: 0000-0003-2441-8818

S.V. Zolotova

Burdenko Neurosurgical Center

ORCID: 0000-0001-8893-3830

O.V. Absalyamova

Burdenko Neurosurgical Center

ORCID: 0000-0002-9062-6212

M.V. Galkin

Burdenko National Medical Research Center for Neurosurgery

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

A.V. Petrokovskaya

Sechenov First Moscow State Medical University

ORCID: 0000-0002-5857-7115

A.V. Kozlov

Burdenko Neurosurgical Center;
Andijan State Medical Institute

ORCID: 0000-0002-3181-6470

A.V. Golanov

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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