Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children65410.24287/1726-1708-2022-21-3-84-89CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯSarcoma with BCOR gene alterations (BCOR-ITD) of the L3 vertebra in an 8-year-old boyСаркома с альтерациями гена BCOR (BCOR-ITD) с изолированным поражением L3-позвонка у мальчика 8 летhttps://orcid.org/0000-0001-8578-6572SidorovI. V.СидоровИ. В.
Russian Federation

Ilya V. Sidorov, a pathologist at the Department of Anatomic Pathologic

1 Samory Mashela St., 117997, Moscow, Russia

Сидоров Илья Владимирович, врач-патологоанатом патологоанатомического отделения

117997, Москва, ул. Саморы Машела, 1

ilya93sidorov@gmail.comhttps://orcid.org/0000-0002-4699-1730FedorovaA. S.ФедороваА. С.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-3387-3567MakarovaN. P.МакароваН. П.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-6848-8714KonoplevaE. I.КоноплеваЕ. И.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-5354-7067SharlaiA. S.ШарлайА. С.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-8580-3499PanferovaA. V.ПанфероваА. 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 РоссииLomonosov Moscow State UniversityФГБОУ ВО «Московский государственный университет им. М.В. Ломоносова»1510202221384891510202215102022Copyright ©; 2022, «D. Rogachev NMRCPHOI»Copyright ©; 2022, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2022«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/654

In the 2020 World Health Organization classification, for the first time, three new groups of tumors were formalized, initially isolated from the group of undifferentiated round cell sarcomas, the so-called Ewing-like sarcomas, namely sarcoma with BCOR genetic alterations, CIC-rearranged sarcoma and sarcomas with EWSR1 gene rearrangement with atypical (non-ETS family) partner genes. This review will focus on sarcoma with BCOR genetic alterations, which will be illustrated by one of our clinical case, characterized by relatively typical features, both in terms of morphological presentation and immunophenotype, and in terms of biological behavior and response to tumor therapy. The patient's parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.

В классификации Всемирной организации здравоохранения 2020 г. впервые были формализованы три новые группы опухолей, выделенные первоначально из группы недифференцированных круглоклеточных сарком, так называемые юингоподобные саркомы, а именно саркома с альтерациями гена BCOR, саркома с перестройкой гена CIC и саркомы с перестройкой гена EWSR1 с нетипичными (не принадлежащими к семейству ETS) генами-партнерами. В данном обзоре речь пойдет о саркоме с альтерациями гена BCOR, которая будет проиллюстрирована одним нашим клиническим наблюдением, характеризующимся относительно типичными признаками в отношении как морфологической картины и иммунофенотипа, так и биологического поведения и ответа опухоли на терапию. Родители пациента дали согласие на использование информации, в том числе фотографий ребенка, в научных исследованиях и публикациях.

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