Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children80110.24287/1726-1708-2023-22-4-16-22ORIGINAL ARTICLESОРИГИНАЛЬНЫЕ СТАТЬИClinical and morphological features of central nervous system tumor with BCOR internal tandem duplicationКлинико-морфологические особенности опухоли центральной нервной системы с внутренней тандемной дупликацией BCORhttps://orcid.org/0000-0002-9921-5620SenchenkoM. A.СенченкоМ. А.
Russian Federation

Maria A. Senchenko, a postgraduate student, a junior researcher at the Department of Pathology of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

1 Samory Mashela St., Moscow 117997

Сенченко Мария Анатольевна, аспирант, младший  научный сотрудник отделения патологической анатомии

117997, Москва, ул. Саморы Машела, 1

mariya.senchenko@fccho-moscow.ruhttps://orcid.org/0000-0003-2015-5790ZaytsevaM. A.ЗайцеваМ. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-7750-5216PapushaL. I.ПапушаЛ. И.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-8580-3499PanferovaA. V.ПанфероваА. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-8049-1908PhlegontovA. N.ФлегонтовА. Н.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-8735-4909KislyakovA. N.КисляковА. Н.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-9496-3136TarakanovaA. V.ТаракановаА. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-1308-8622DruyA. E.ДруйА. Е.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-7732-8184KonovalovD. M.КоноваловД. М.
Russian Federation

Moscow

Москва

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России2012202322416220501202405012024Copyright ©; 2023, «D. Rogachev NMRCPHOI»Copyright ©; 2023, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2023«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/801

In 2022, central nervous system (CNS) tumor with BCOR internal tandem duplication (BCOR ITD) was included in the fifth edition of the World Health Organization Classification of Tumors of the CNS as part of the embryonal tumor group. The identification a distinct DNA methylation profile and the presence of a recurrent genetic aberration – BCOR ITD – made it possible to recognize these tumors as a separate entity. In most cases, these tumors occur in children under 5 years of age and are located in the hemispheres of the cerebellum or brain. Since CNS tumor with BCOR ITD is a rare and relatively new tumor entity, it is not yet widely known and can be misdiagnosed. The most common initial diagnosis in patients referred for a second opinion to our reference center is anaplastic/classical medulloblastoma. In this article, we aimed to summarize the characteristic clinical, morphological and immunophenotypic features of CNS tumors with BCOR ITD based on 8 clinical cases confirmed by molecular genetic testing. The study was approved by the Independent Ethics Committee and the Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology.

В 2022 г. опухоль центральной нервной системы (ЦНС) с внутренней тандемной дупликацией BCOR (BCOR ITD) вошла в 5-е издание классификации Всемирной организации здравоохранения опухолей ЦНС в раздел «Эмбриональные опухоли ЦНС». Выделение данной опухоли как отдельной нозологической формы стало возможным благодаря определению характерного профиля метилирования ДНК и наличию повторяющейся генетической аберрации – BCOR ITD. В большинстве случаев опухоль возникает у детей младше 5 лет с локализацией в полушариях мозжечка или головного мозга. Ввиду редкой встречаемости и относительно недавнего выделения как отдельной нозологической формы опухоль ЦНС с BCOR ITD еще не так широко известна, что может приводить к диагностическим ошибкам. Наиболее частый входящий диагноз при направлении на пересмотр в референс-центр – «анапластическая/классическая медуллобластома». Цель настоящей статьи – выделение и обобщение характерных клинико-морфологических и иммунофенотипических особенностей опухоли ЦНС с BCOR ITD на основании 8 случаев, подтвержденных молекулярногенетически. Настоящее исследование одобрено независимым этическим комитетом и утверждено решением ученого совета НМИЦ ДГОИ им. Дмитрия Рогачева.

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