nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.21682/2311-1267-2021-8-1-85-92nodgo-693Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL CASESПервый опыт применения MEK-ингибиторов при нейрофиброматозе I типа у детей в Российской Федерации в условиях стационара кратковременного лечения национального медицинского исследовательского центраThe first experience of using MEK inhibitors for type 1 neurofibromatosis in children in the Russian Federation in a hospital for short-term treatment at the National Medical Research Centerhttps://orcid.org/0000-0003-2677-367XЕршовН. М.ErshovN. M.

врач-гематолог стационара кратковременного лечения,

117997, Москва, ул. Саморы Машела, 1

Hematologist of the Hospital for Short-Term Treatment,

1 Samory Mashela St., Moscow, 117997

4268516@gmail.comhttps://orcid.org/0000-0002-2057-2036ПшонкинА. В.PshonkinA. V.

к.м.н., заведующий стационаром кратковременного лечения,

117997, Москва, ул. Саморы Машела, 1

Cand. of Sci. (Med.), Head of the Hospital for Short-Term Treatment,

1 Samory Mashela St., Moscow, 117997

alexey.pshonkin@gmail.comhttps://orcid.org/0000-0003-0652-6049МарееваЮ. М.MareevaYu. M.

врач-детский онколог консультативного отделения,

117997, Москва, ул. Саморы Машела, 1

Pediatric Oncologist Consultative Department,

1 Samory Mashela St., Moscow, 117997

7261610@mail.ruhttps://orcid.org/0000-0003-3007-3772ЯськоЛ. А.YaskoL. A.

к.б.н., старший научный сотрудник лаборатории молекулярной биологии,

117997, Москва, ул. Саморы Машела, 1

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

1 Samory Mashela St., Moscow, 117997

liudmila.yasko@fccho-moscow.ruhttps://orcid.org/0000-0003-0900-6874КурниковаМ. В.KurnikovaM. V.

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

117997, Москва, ул. Саморы Машела, 1

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

1 Samory Mashela St., Moscow, 117997

maria.kurnikova@fccho-moscow.ruhttps://orcid.org/0000-0003-2801-7421ЕвстратовД. А.EvstratovD. A.

врач-педиатр отделения онкогематологии,

117997, Москва, ул. Саморы Машела, 1

Pediatrician of the Department of Oncohematology,

1 Samory Mashela St., Moscow, 117997

dmitriy.evstratov@fccho-moscow.ruhttps://orcid.org/0000-0001-7808-1347ГобадзеД. А.GobadzeD. A.

врач-гематолог стационара кратковременного лечения,

117997, Москва, ул. Саморы Машела, 1

Hematologist of the Hospital for Short-Term Treatment,

1 Samory Mashela St., Moscow, 117997

darina.gobadze@fccho-moscow.ruhttps://orcid.org/0000-0001-7750-5216ПапушаЛ. А.PapushaL. A.

к.м.н., ведущий научный сотрудник, заведующая отделом оптимизации терапии опухолей центральной нервной системы,

117997, Москва, ул. Саморы Машела, 1

Cand. of Sci. (Med.), Leading Researcher, Head of the Department of Optimization of CNS Tumor Therapy,

1 Samory Mashela St., Moscow, 117997

lyudmila.papusha@fccho-moscow.ruhttps://orcid.org/0000-0001-8880-9266ОвсянниковаГ. С.OvsyannikovaG. S.

к.м.н., врач-гематолог стационара кратковременного лечения,

117997, Москва, ул. Саморы Машела, 1

Cand. of Sci. (Med.), Hematologist of the Hospital for Short-Term Treatment,

1 Samory Mashela St., Moscow, 117997

galina.ovsyannikova@fccho-moscow.ruhttps://orcid.org/0000-0002-1643-5960РумянцевА. Г.RumyantsevA. G.

 академик РАН, д.м.н., профессор, президент НМИЦ ДГОИ им. Дмитрия Рогачева, главный внештатный детский специалист онколог-гематолог Минздрава России, 

117997, Москва, ул. Саморы Машела, 1

Academician of the Russian Academy of Sciences, Dr. of Sci. (Med.), Professor, President of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia, Chief Freelance Pediatric Oncologist and Hematologist of the Ministry of Health of Russia, 

1 Samory Mashela St., Moscow, 117997

Alexander.Rumyantsev@fccho-moscow.ruФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии имени Дмитрия Рогачева» Минздрава РоссииРоссияDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of RussiaRussian Federation202107042021818592Copyright © Ершов Н.М., Пшонкин А.В., Мареева Ю.М., Ясько Л.А., Курникова М.В., Евстратов Д.А., Гобадзе Д.А., Папуша Л.А., Овсянникова Г.С., Румянцев А.Г., 20212021Ершов Н.М., Пшонкин А.В., Мареева Ю.М., Ясько Л.А., Курникова М.В., Евстратов Д.А., Гобадзе Д.А., Папуша Л.А., Овсянникова Г.С., Румянцев А.Г.Ershov N.M., Pshonkin A.V., Mareeva Y.M., Yasko L.A., Kurnikova M.V., Evstratov D.A., Gobadze D.A., Papusha L.A., Ovsyannikova G.S., Rumyantsev A.G.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/693

Нейрофиброматоз – это генетическое заболевание, поражающее кости, мягкие ткани, кожу и нервную систему. Несмотря на то, что впервые нейрофиброматоз был описан еще в 1882 г., до сих пор не существует специфического лечения самого заболевания и единых стандартов терапии самых частых и опасных осложнений в виде доброкачественных опухолей из клеток оболочек периферических нервов. В настоящее время в научном мире уже появилось понимание биологии данного вида опухоли, что и послужило толчком к проведению многочисленных клинических исследований различных препаратов. Применение MEK-ингибиторов, воздействующих на сигнальный путь RAS-MAPK, позволило открыть медикаментозную терапию, приводящую к уменьшению размеров неоперабельных опухолей у большинства детей, страдающих нейрофиброматозом I типа (NF1). Хотя терапия данными препаратами не позволяет достичь значимого сокращения опухолевого объема, она значительно улучшает качество жизни. В данной статье представлен случай прекрасного терапевтического эффекта от применения траметиниба у ребенка, страдающего NF1-ассоциированными плексиформными нейрофибромами. 

Neurofibromatosis is a genetic disorder that affects the bones, soft tissues, skin, and the nervous system. Neurofibromatosis has been described in 1882, however, there is still no specific treatment for this disease and no treatment protocols for the most frequent and life-threatening complications such as non-malignant tumors deriving from the cells of the peripheral nerve sheaths. Progress in molecular genetic study discovered the underlying genetic alteration in this tumor. This knowledge provides the base for clinical trials with new drugs. MEK-inhibitors are acting on the RAS-MAPK signaling pathway and have shown their efficacy in decreasing the size of inoperable tumors in children with type 1 neurofibromatosis (NF1). Although, this therapy does not completely reduce the tumor volume, it can significantly improve the quality of life. This article presents a clinical case of the trametinib efficacy in a child suffering from NF1-associated plexiform neurofibromas. 

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