polenovjournalРоссийский нейрохирургический журнал имени профессора А. Л. ПоленоваRussian Neurosurgical Journal named after Professor A. L. Polenov2071-2693Семинары, Конференции и Форумы10.56618/2071-2693_2024_16_2_150JSXZVHpolenovjournal-333Research ArticleОБЗОРЫ ЛИТЕРАТУРЫ И КЛИНИЧЕСКИЕ СЛУЧАИREVIEWS OF LITERATURE AND CLINICAL CASESПервично-множественные опухоли нервной системы различных гистологических типов в структуре наследственных опухолевых синдромовPrimary multiple tumors of the nervous system of different histological types in the structure of hereditary tumor syndromeshttps://orcid.org/0000-0001-6608-935XВоиновН. Е.VoinovN. E.

Никита Евгеньевич Воинов – врач-нейрохирург

ул. Маяковского, д. 12, Санкт-Петербург, 191025

Nikita E. Voinov – Neurosurgeon

12 Mayakovskogo street, St. Petersburg, 191025

nik_voin@mail.ruhttps://orcid.org/0000-0002-8343-4917УлитинА. Ю.UlitinA. Yu.

Алексей Юрьевич Улитин – доктор медицинских наук, профессор, заслуженный врач Российской Федерации, врач-нейрохирург высшей квалификационной категории, заведующий кафедрой нейрохирургии Института медицинского образования, заведующий нейрохирургическим отделением № 4

ул. Маяковского, д. 12, Санкт-Петербург, 191025

Alexey Yu. Ulitin – Dr. of Sci. (Med.), Full Professor, Honored Doctor of Russian Federation, Neurosurgeon of the Highest Qualification Category, Head at the Department of Neurosurgery No. 4

12 Mayakovskogo street, St. Petersburg, 191025

ulitin_ayu@almazovcentre.ruhttps://orcid.org/0000-0001-9787-8132ГерасимовА. П.GerasimovA. P.

Александр Павлович Герасимов – врач-невролог, генетик, старший научный сотрудник НИЛ нейрохирургии детского возраста

ул. Маяковского, д. 12, Санкт-Петербург, 191025

Alexander P. Gerasimov – Neurologist, Geneticist, Senior Researcher at the Research Laboratory of Pediatric Neurosurgery

12 Mayakovskogo street, St. Petersburg, 191025

 

gerasimov_ap@almazovcentre.ruhttps://orcid.org/0000-0002-1123-8271КукановК. К.KukanovK. K.

Константин Константинович Куканов – кандидат медицинских наук, врач-нейрохирург высшей квалификационной категории нейрохирургического отделения № 4, старший научный сотрудник группы стереотаксической и функциональной нейрохирургии НИЛ нейроонкологии

ул. Маяковского, д. 12, Санкт-Петербург, 191025

Konstantin K. Kukanov – Cand. of Sci. (Med.), Neurosurgeon of the Highest Qualification Category at the Neurosurgical Department No. 4, Senior Researcher at the Institute of Neuro-Oncology

12 Mayakovskogo street, St. Petersburg, 191025

kukanov_kk@almazovcentre.ruРоссийский научно-исследовательский нейрохирургический институт имени профессора А. Л. Поленова – филиал Федерального государственного бюджетного учреждения «Национальный медицинский исследовательский центр имени В. А. Алмазова» Министерства здравоохранения Российской ФедерацииРоссияPolenov Neurosurgery Institute – the branch of Almazov National Medical Research CentreRussian Federation202428062024162150164Copyright © Воинов Н.Е., Улитин А.Ю., Герасимов А.П., Куканов К.К., 20242024Воинов Н.Е., Улитин А.Ю., Герасимов А.П., Куканов К.К.Voinov N.E., Ulitin A.Y., Gerasimov A.P., Kukanov K.K.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://polenovjournal.elpub.ru/jour/article/view/333

Известно, что большинство раковых заболеваний возникает в результате генетических мутаций, ведущих либо к потере функции генов-супрессоров опухолевого роста, либо к активации онкогенов на фоне снижения противоопухолевого иммунного надзора организма.

Ряд больных с первично-множественными церебральными опухолями различных гистологических типов могут иметь тот или иной наследственный опухолевый синдром.

Рассматриваются 27 наследственных заболеваний, одним из фенотипических проявлений которых являются опухоли нервной системы, такие как нейрофиброматоз 1-го (болезнь Реклингхаузена) и 2-го типов; шванноматоз; туберозный склероз; ретинобластома; синдромы Нунан, LEOPARD, Костелло, Легиуса, Тюрко 1-го и 2-го типов, Ли – Фраумени, DICER, фон Гиппиля – Линдау, Каудена, Горлина, предрасположенности к рабдоидным опухолям, семейной параганглиоме, меланоме-астроцитоме, предрасположенности к опухолям BAP1, ELP1-медуллобластомы, Луи – Бар, Ниймеген, Вискотта – Олдрича, Блума, Рубинштейна – Тайби, а также анемия Фанкони и комплекс Карни. 

It is known that most cancers arise as a result of genetic mutations leading either to loss of function of tumor suppressor genes or to activation of oncogenes against the background of a decrease in the body’s antitumor immune surveillance.

A number of patients with primary multiple cerebral tumors of various histological types may have one or another hereditary tumor syndrome.

This article discusses 27 hereditary diseases, one of the phenotypic manifestations of which are tumors of the nervous system, such as: neurofibromatosis 1 (Recklinghausen disease) and types 2; schwannomatosis; tuberous sclerosis; retinoblastoma; syndromes: Noonan, LEOPARD, Costello, Legius, Turcot 1 and 2 types 1, Li – Fraumeni, DICER, von Hippil – Lindau, Cowden, Gorlin, rhabdoid tumor predisposition, familial paraganglioma, melanoma-astrocytoma, BAP1, ELP1 tumor predisposition – medulloblastomas, Louis – Bar, Nijmegen, Wiskott – Aldrich, Bloom, Rubinstein – Taybi, as well as Fanconi anemia and Carney complex.

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The authors declare that there are no conflicts of interest present.