nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.21682/2311-1267-2022-9-2-75-84nodgo-832Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL CASESSMARCA4-ассоциированные злокачественные рабдоидные опухоли: описание клинического случая и обзор литературыSMARCA4-associated malignant rhabdoid tumors: case report and literature reviewhttps://orcid.org/0000-0001-5626-218XАндрееваН. А.AndreevaN. A.

Наталья Александровна Андреева, врач-детский онколог отделения клинической онкологии

117997, Москва, ул. Саморы Машела, 1

Pediatric Oncologist Department of Clinical Oncology

1 Samory Mashela St., Moscow, 117997

andreeva793@bk.ruhttps://orcid.org/0000-0003-0717-2019ЛюдовскихЭ. И.LyudovskikhE. I.

врач-ординатор

117997, Москва, ул. Саморы Машела, 1

Resident

1 Samory Mashela St., Moscow, 117997

evcola@yandex.ruhttps://orcid.org/0000-0001-7732-8184КоноваловД. М.KonovalovD. M.

к.м.н., заведующий патологоанатомическим отделением

117997, Москва, ул. Саморы Машела, 1

Cand. of Sci. (Med.), Head of the Pathology Department

1 Samory Mashela St., Moscow, 117997

dmk_nadf@mail.ruhttps://orcid.org/0000-0003-4042-0125ТелешоваМ. В.TeleshovaM. V.

врач-детский онколог отделения клинической онкологии

117997, Москва, ул. Саморы Машела, 1

Pediatric Oncologist Department of Clinical Oncology

1 Samory Mashela St., Moscow, 117997

teleshova_m@mail.ruhttps://orcid.org/0000-0002-9788-0504МитрофановаА. М.MitrofanovaA. M.

врач-патологоанатом патологоанатомического отделения

117997, Москва, ул. Саморы Машела, 1

Pathologist Pathology Department

1 Samory Mashela St., Moscow, 117997

pathmorf@mail.ruhttps://orcid.org/0000-0003-0900-6874КурниковаМ. А.KurnikovaM. A.

к.м.н., врач-генетик лаборатории молекулярной биологии

117997, Москва, ул. Саморы Машела, 1

Cand. of Sci. (Med.), Geneticist Laboratory of Molecular Biology

1 Samory Mashela St., Moscow, 117997

maria.kurnikova@fccho-moscow.ruhttps://orcid.org/0000-0003-3007-3772ЯськоЛ. А.YaskoL. A.

старший научный сотрудник лаборатории молекулярной биологии

SPIN-код: 9721-6910

117997, Москва, ул. Саморы Машела, 1

Cand. of Sci. (Biol.), Senior Researcher Laboratory of Molecular Biology

SPIN-code: 9721-6910

1 Samory Mashela St., Moscow, 117997

liudmila.yasko@fccho-moscow.ruhttps://orcid.org/0000-0003-1308-8622ДруйА. Е.DruyA. E.

к.м.н., заведующий лабораторией молекулярной онкологии

117997, Москва, ул. Саморы Машела, 1

Cand. of Sci. (Med.), Head of the Laboratory of Molecular Oncology

1 Samory Mashela St., Moscow, 117997

alexander.druy@fccho-moscow.ruГорошковаМ. Ю.GoroshkovaM. Yu.

к.м.н., заведующая отделением детской онкологии, гематологии

654063, Кемеровская область, Новокузнецк, ул. Димитрова, 33

Cand. of Sci. (Med.), Head of the Department of Pediatric Oncology, Hematology

33 Dimitrova St., Novokuznetsk, Kemerovo region, 654063

mgor.14@yandex.ruhttps://orcid.org/0000-0002-3767-4477ШаманскаяТ. В.ShamanskayaT. V.

к.м.н., врач-детский онколог, руководитель отдела изучения эмбриональных опухолей Института онкологии, радиологии и ядерной медицины

117997, Москва, ул. Саморы Машела, 1

Cand. of Sci. (Med.), Physician, Children Oncologist, Head of the Department of Embryonic Tumors Research of the Institute of Oncology, Radiology and Nuclear Medicine

1 Samory Mashela St., Moscow, 117997

shamanskaya.tatyana@gmail.comhttps://orcid.org/0000-0002-3704-8783КачановД. Ю.KachanovD. Yu.

д.м.н., заместитель директора Института онкологии, радиологии и ядерной медицины и заведующий отделением клинической онкологии

SPIN-код: 9878-5540

117997, Москва, ул. Саморы Машела, 1

Dr. of Sci. (Med.), Deputy Director of the Institute of Oncology, Radiology and Nuclear Medicine & Head of the Department of Clinical Oncology

SPIN-code: 9878-5540

1 Samory Mashela St., Moscow, 117997

Denis.Kachanov@fccho-moscow.ruФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава РоссииРоссияDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of RussiaRussian FederationГБУЗ «Кузбасская детская клиническая больница имени профессора Ю.Е. Малаховского»РоссияKuzbass Children’s Clinical Hospital named after Professor Yu.E. MalakhovskiyRussian Federation202215082022927584Copyright © Андреева Н.А., Людовских Э.И., Коновалов Д.М., Телешова М.В., Митрофанова А.М., Курникова М.А., Ясько Л.А., Друй А.Е., Горошкова М.Ю., Шаманская Т.В., Качанов Д.Ю., 20222022Андреева Н.А., Людовских Э.И., Коновалов Д.М., Телешова М.В., Митрофанова А.М., Курникова М.А., Ясько Л.А., Друй А.Е., Горошкова М.Ю., Шаманская Т.В., Качанов Д.Ю.Andreeva N.A., Lyudovskikh E.I., Konovalov D.M., Teleshova M.V., Mitrofanova A.M., Kurnikova M.A., Yasko L.A., Druy A.E., Goroshkova M.Y., Shamanskaya T.V., Kachanov D.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nodgo.org/jour/article/view/832

Злокачественная рабдоидная опухоль (ЗРО) – это редкое злокачественное новообразование детского возраста, отличающееся агрессивным течением и крайне неблагоприятным прогнозом. Частота встречаемости ЗРО вне центральной нервной системы (экстракраниальные ЗРО) составляет 0,02–0,03 на 100 000 детского населения. В большинстве случаев в основе развития ЗРО лежат инактивирующие мутации гена-супрессора опухолевого роста SMARCB1, приводящие к отсутствию экспрессии белка SMARCB1 (INI1/hSNF5/BAF47) в опухоли. Среди ЗРО, экспрессирующих SMARCB1 (INI1), описаны аберрации гена SMARCA4, что является крайне редким молекулярным событием. На данный момент в международной литературе описаны единичные наблюдения.Представленная статья содержит описание клинического случая пациента с диагнозом ЗРО мягких тканей с альтерацией в гене SMARCA4. Характерными особенностями представленного случая являются врожденный характер опухоли, нетипичная локализация, крайне агрессивное клиническое течение заболевания. На примере описанного клинического случая представлены особенности диагностики SMARCA4-ассоциированных ЗРО, а также место молекулярно-генетических методов исследования в уточнении диагноза. Кроме того, подчеркнуто, что выявление соматических изменений в генах SMARСB1 и SMARCA4 требует дополнительного исследования их герминального статуса для исключения/подтверждения синдромов предрасположенности к рабдоидным опухолям.

Malignant rhabdoid tumor (MRT) is a rare malignant neoplasm of childhood, characterized by an aggressive course and an extremely unfavorable prognosis. The frequency of MRT outside the central nervous system (extracranial MRT) is 0.02–0.03 per 100,000 children. In most cases, MRT is based on an inactivating mutations of the tumor suppressor gene SMARCB1, which leads to the absence of expression of the SMARCB1 ((INI1/hSNF5/BAF47) protein in tumor cells. Aberrations of the SMARCA4 gene, which is an extremely rare molecular event, have been described among the MRTs expressing SMARCB1 (INI1). Few case reports have been described in the international literature.This article contains a description of a clinical case of a patient diagnosed with soft tissue MRT with SMARCA4 gene alteration. The distinctive features of the presented case are the congenital nature of the tumor, atypical localization, and extremely aggressive clinical course of the disease. On the example of the described clinical case, diagnostics of SMARCA4-associated MRT are presented, as well as the place of molecular methods in diagnosis verification. In addition, it is highlighted that the detection of somatic changes in the SMARCB1 and SMARCA4 genes requires additional investigation of their germinal status to exclude or confirm the rhabdoid tumor predisposition syndrome.

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