problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl13607problendo-13607Research ArticleДетская эндокринологияPediatric EndocrinologyОпухолевый синдром в структуре нейрофиброматоза 1 типа у детейNeurofibromatosis 1-related tumors in pediatric patientshttps://orcid.org/0009-0007-0752-4885ДерюгинаВ. С.DeryuginaV. S.

Дерюгина Валерия Сергеевна

194100, Санкт-Петербург, ул. Литовская, д. 2

Valeria S. Deryugina, resident doctor

2 Litovskaya street, 194100, St. Petersburg

deriugina.ler@yandex.ruhttps://orcid.org/0000-0001-9753-9536ТошинаЮ. К.ToshinaY. K.

Тошина Юлия Константиновна, врач-детский онколог отделения химиотерапии онкогематологических заболеваний и ТКМ для детей

Санкт-Петербург

Yulia K. Toshina

St. Petersburg

toshina_yuk@almazovcentre.ruhttps://orcid.org/0000-0003-4013-0785НикитинаИ. Л.NikitinaI. L.

Никитина Ирина Леоровна, д.м.н., профессор, заведующий кафедрой детских болезней с клиникой ИМО

Санкт-Петербург

Irina L. Nikitina, Dr. Sci. (Med.), Professor

St. Petersburg

nikitina0901@gmail.comhttps://orcid.org/0000-0002-5661-5560ТодиеваА. М.TodievaA. M.

Тодиева Анастасия Михайловна, к.м.н. 

Санкт-Петербург

Anastasia M. Todieva, MD, PhD

St. Petersburg

todieva_am@almazovcentre.ruhttps://orcid.org/0000-0001-6547-0925ДехтяреваН. С.DekhtyarevaN. S.

Дехтярева Надежда Сергеевна

Санкт-Петербург

Nadezhda S. Dekhtyareva, resident doctor

St. Petersburg

dekhtyaryova.nadezhda@yandex.ruhttps://orcid.org/0000-0002-2003-0982ДиникинаЮ. В.DinikinaY. V.

Диникина Юлия Валерьевна, к.м.н., доцент, заведующий отделением химиотерапии онкогематологических заболеваний и ТКМ для детей

Санкт-Петербург

Yulia V. Dinikina, Cand. Sci. (Med.

St. Petersburg

Dinikinayulia@mail.ruНациональный медицинский исследовательский центр им. В.А. АлмазоваРоссияAlmazov National Medical Research CenterRussian Federation2025021220257157581Copyright © Дерюгина В.С., Тошина Ю.К., Никитина И.Л., Тодиева А.М., Дехтярева Н.С., Диникина Ю.В., 20252025Дерюгина В.С., Тошина Ю.К., Никитина И.Л., Тодиева А.М., Дехтярева Н.С., Диникина Ю.В.Deryugina V.S., Toshina Y.K., Nikitina I.L., Todieva A.M., Dekhtyareva N.S., Dinikina Y.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/13607

Нейрофиброматоз 1 типа (НФ1) представляет собой мультисистемное генетическое заболевание, ассоциированное с повышенным риском развития опухолей в течение жизни. Наблюдение пациентов с НФ1 с привлечением специалистов различных профилей и применением программ скрининга является ключевым аспектом ранней диагностики характерных патологических состояний, определяющих риски инвалидизации и снижения продолжительности жизни. Авторами статьи представлен клинический случай пациентки подросткового возраста с НФ1 и сочетанными опухолевыми заболеваниями, при этом каждая из диагностированных неоплазий (плексиформная нейрофиброма и феохромоцитома) имела симптоматическое течение, приводя к серьезным нарушениям соматического статуса и качества жизни ребенка. Мультидисциплинарный подход в оказании медицинской помощи пациентке позволил достичь хороших результатов терапии с возобновлением привычного образа жизни, несмотря на продолжающуюся таргетную терапию.

Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder associated with a lifelong increased risk of tumor development. Comprehensive monitoring of patients with NF1, involving a multidisciplinary team of specialists and the implementation of screening programs, is crucial for the early detection of associated pathological conditions that contribute to disability and reduced life expectancy. This article presents a clinical case of an adolescent female patient with tumor manifestations of NF1, in whom both diagnosed neoplasms — plexiform neurofibroma and pheochromocytoma, had a symptomatic course, significantly affecting her physical health and quality of life. A multidisciplinary approach and correct treatment led to favorable outcomes, enabling the patient to resume a normal lifestyle, despite the continuation of targeted therapy.

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