Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children110510.24287/j.1105UMBZQUCLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯResearch ArticleMolecular genetic landscape and current therapeutic approaches to desmoplastic small round cell tumor. Own observations and literature reviewМолекулярно-генетический ландшафт и актуальные подходы к терапии десмопластической мелкокруглоклеточной опухоли. Собственные наблюдения и обзор литературыhttps://orcid.org/0009-0003-8081-162XTsvetkovaMaria M.ЦветковаМария Максимовна
Russian Federation

a resident

ординатор

tsvetkovamaria3478@gmail.comhttps://orcid.org/0000-0002-1661-4205SinichenkovaK. Yu.СиниченковаК. Ю.
Russian Federation
tsvetkovamaria3478@gmail.comhttps://orcid.org/0000-0001-8578-6572SidorovI. V.СидоровИ. В.
Russian Federation
tsvetkovamaria3478@gmail.comhttps://orcid.org/0000-0002-8580-3499PanferovaA. V.ПанфероваА. В.
Russian Federation
tsvetkovamaria3478@gmail.comhttps://orcid.org/0000-0002-4699-1730FedorovaA. S.ФедороваА. С.
Russian Federation

Russian Children’s Clinical Hospital

Российская детская клиническая больница

tsvetkovamaria3478@gmail.comhttps://orcid.org/0000-0001-9179-8430AbasovR. Kh.АбасовР. Х.
Russian Federation
tsvetkovamaria3478@gmail.comhttps://orcid.org/0000-0002-4451-3233GrachevN. S.ГрачевН. С.
Russian Federation
tsvetkovamaria3478@gmail.comhttps://orcid.org/0000-0003-1308-8622DruyA. E.ДруйА. Е.
Russian Federation
tsvetkovamaria3478@gmail.comThe Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава РоссииN.I. Pirogov Russian National Research Medical University of Ministry of Health of the Russian FederationФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России190820262532002072503202627042026Copyright ©; 2026, «D. Rogachev NMRCPHOI»Copyright ©; 2026, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2026«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/1105

This paper presents, to our knowledge, the first reported case of desmoplastic small round cell tumor harboring a somatic missense variant in the EGFR gene in exon 21, c.2620G>C (p.Gly874Arg), which did not demonstrate sensitivity to treatment with the EGFR inhibitor osimertinib. Additionally, we describe a clinical case of a patient with ovarian desmoplastic small round cell tumor carrying a pathogenic PIK3CA variant, c.263G>A (p.Arg88Gln).

В данной работе представлен первый случай десмопластической мелкокруглоклеточной опухоли, имеющей соматический миссенс-вариант EGFR в 21-м экзоне c.2620G>C, p.Gly874Arg, при котором не отмечено чувствительности к терапии ингибитором EGFR осимертинибом. Дополнительно приводится наблюдение пациентки с десмопластической мелкокруглоклеточной опухолью яичников и патогенным вариантом PIK3CA c.263G>A, p.Arg88Gln.

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