nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.21682/2311-1267-2022-9-4-102-106nodgo-889Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL CASESСаркома правой бедренной кости с гетерогенной морфологией, схожей с миоэпителиальной карциномой и амплификацией гена EWSR1 у мальчика 15 лет. Клиническое наблюдение и обзор литературыSarcoma of the right femur with heterogeneous morphology similar to myoepithelial carcinoma and amplification of the EWSR1 gene in a 14-year-old boy. Clinical observation and literature reviewhttps://orcid.org/0000-0001-8578-6572СидоровИ. В.SidorovI. V.

Илья Владимирович Сидоров, врач-патологоанатом

патологоанатомическое отделение

117997

ул. Саморы Машела, 1

Москва

Pathologist

Pathological Anatomical Department

117997

1 Samory Mashela St.

Moscow

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

студентка

6-ой курс

факультет фундаментальной медицины

119192

Ломоносовский просп., 27, корп. 1

Москва

6th year Student

Faculty of Fundamental Medicine

119192

Bld. 1, 27 Lomonosovskiy Prosp.

Moscow

fyodorova_hannah@mail.ruhttps://orcid.org/0000-0002-6848-8714КоноплёваЕ. И.KonoplevaE. I.

младший научный сотрудник

отдел исследования сарком

117997

ул. Саморы Машела, 1

Москва

Junior Researcher

Department of Sarcoma Research

117997

1 Samory Mashela St.

Moscow

elena.konopleva@fccho-moscow.ruhttps://orcid.org/0000-0001-5354-7067ШарлайА. С.SharlaiA. S.

врач-лабораторный генетик

патологоанатомическое отделение

117997

ул. Саморы Машела, 1

Москва

Laboratory Geneticist

Pathological Anatomical Department

117997

1 Samory Mashela St.

Moscow

sova.vtumane@ya.ruhttps://orcid.org/0000-0001-7732-8184КоноваловД. М.KonovalovD. M.

к. м. н., заведующий отделением

патологоанатомическое отделение

117997

ул. Саморы Машела, 1

Москва

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

Pathological Anatomical Department

117997

117997

1 Samory Mashela St.

Moscow

dmk_nadf@mail.ruФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава РоссииРоссияDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of RussiaRussian FederationГУНУ «Факультет фундаментальной медицины Московского государственного университета имени М.В. Ломоносова»РоссияFaculty of Fundamental Medicine at M. V. Lomonosov Moscow State UniversityRussian Federation20220402202394102106Copyright © Сидоров И.В., Федорова А.С., Коноплёва Е.И., Шарлай А.С., Коновалов Д.М., 20232023Сидоров И.В., Федорова А.С., Коноплёва Е.И., Шарлай А.С., Коновалов Д.М.Sidorov I.V., Fedorova A.S., Konopleva E.I., Sharlai A.S., Konovalov D.M.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/889

   Саркома Юинга (СЮ) является одной из самых частых первичных опухолей костей и имеет под собой хорошо изученную и известную диагностически важную генетическую подоплеку. Однако встречаются первично-костные круглоклеточные опухоли с атипичной морфологией, отличной от конвенциональной СЮ, опухоли с перестройкой гена EWSR1 c генами-партнерами не из семейства генов ETS, опухоли с необычными изменениями гена EWSR1 по типу амплификации или делеции, что может вызывать значительные диагностические трудности. В данной статье нами описан случай первичной костной опухоли с нетипичной морфологией, схожей с миоэпителиальной карциномой, где была выявлена амплификация гена EWSR1. По совокупности морфологических, иммунологических, генетических и клинических признаков данная опухоль была классифицирована как саркома из группы EWSR1::nonETS круглоклеточных сарком, а именно саркома c перестройкой EWSR1::NFATC2, впервые формализованная в классификации опухолей мягких тканей Всемирной организации здравоохранения в 2020 г.

   Ewing sarcoma (ES) is one of the most frequent primary bone tumors and has a well-studied diagnostically important genetic background. However, there are primary bone round-cell tumors with atypical morphology different from conventional ES, tumors with rearrangement of the EWSR1 gene with partner genes not from the ETS gene family, tumors with unusual changes in the EWSR1 gene (amplification or deletion), which can cause significant diagnostic difficulties. In this article, we will describe a case of a primary bone tumor with an atypical morphology similar to myoepithelial carcinoma, where an amplification of the EWSR1 gene was detected. According to morphological, immunological, genetic and clinical signs, this tumor was classified as a sarcoma from the EWSR1::non-ETS group of round-cell sarcomas, namely a sarcoma with EWSR1::NFATC2 rearrangement, first formalized in the WHO classification of soft tissue tumors in 2020.

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