problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl13445problendo-13445Research ArticleДетская эндокринологияPediatric EndocrinologyРак щитовидной железы у ребенка с синдромом КоуденаThyroid cancer in a child with Cowden syndromehttps://orcid.org/0009-0005-7370-891XБричеваЭ. Б.BrichevaE. B.

Бричева Элла Байзетовна

117036, Москва, ул. Дмитрия Ульянова, д. 11

Ella B. Bricheva

11 Dm. Ulyanova street, 117036 Moscow

e.bri4eva@yandex.ruhttps://orcid.org/0000-0001-6429-7198НагаеваЕ. В.NagaevaE. V.

Нагаева Елена Витальевна - д.м.н.

Москва

Elena V. Nagaeva - MD, PhD.

Moscow

nagaeva.elena@endocrincentr.ruhttps://orcid.org/0000-0002-3734-6510БровинД. Н.BrovinD. N.

Бровин Дмитрий Николаевич - к.м.н.

Москва

Dmitriy N. Brovin - MD, PhD.

Moscow

brovin-dn@yandex.ruhttps://orcid.org/0000-0003-2122-2297БондаренкоЕ. В.BondarenkoE. V.

Бондаренко Екатерина Владимировна - к.м.н.

Москва

Ekaterina V. Bondarenko - MD, PhD.

Moscow

bondarenko.ekaterina@endocrincentr.ruhttps://orcid.org/0000-0003-3785-0335ШереметаМ. С.SheremetaM. S.

Шеремета Марина Сергеевна - к.м.н.

Москва

Marina S. Sheremeta - MD, PhD.

Moscow

marina888@yandex.ruhttps://orcid.org/0000-0001-9621-5732БезлепкинаО. Б.BezlepkinaO. B.

Безлепкина Ольга Борисовна - профессор, д.м.н.

Москва

Olga B. Bezlepkina - professor, Doctor of Medicine.

Moscow

olga.bezlepkina@endocrincentr.ruОлинаТ. С.OlinaT. S.

Олина Татьяна Сергеевна

Ижевск

Tatiana V. Kovalenko - DMD, PhD, Professor.

Izhevsk

olina031184@gmail.comhttps://orcid.org/0000-0003-4765-1911КоваленкоТ. В.KovalenkoT. V.

Коваленко Татьяна Викторовна - д.м.н., профессор.

Ижевск

Tatiana S. Olina – MD.

Izhevsk

tatkov18@mail.ruНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CentreRussian FederationРеспубликанская детская клиническая больницаРоссияRepublican children’s clinical hospitalRussian FederationИжевская государственная медицинская академияРоссияIzhevsk State Medical AcademyRussian Federation2024041120247058490Copyright © Бричева Э.Б., Нагаева Е.В., Бровин Д.Н., Бондаренко Е.В., Шеремета М.С., Безлепкина О.Б., Олина Т.С., Коваленко Т.В., 20242024Бричева Э.Б., Нагаева Е.В., Бровин Д.Н., Бондаренко Е.В., Шеремета М.С., Безлепкина О.Б., Олина Т.С., Коваленко Т.В.Bricheva E.B., Nagaeva E.V., Brovin D.N., Bondarenko E.V., Sheremeta M.S., Bezlepkina O.B., Olina T.S., Kovalenko T.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/13445

Болезнь Коудена (синдром Коудена) относится к PTEN-ассоциированным синдромам гамартомных опухолей. Возникает в связи с мутацией в гене гомолога фосфатазы и тензина, одной из основных функций которого является регуляция клеточного цикла. Наличие мутации в гене приводит к неконтролируемому росту клеток, а пациенты имеют пожизненный повышенный риск возникновения новообразований различной степени злокачественности. В статье представлен клинический случай синдрома Коудена с ранним дебютом — в 7 лет. Патогномоничным для синдрома Коудена является сочетание макроцефалии (SDS окружности головы >2) с различными кожными проявлениями (трихилеммомы лица, акральный кератоз, папилломатозные папулы), наличие доброкачественных и/или злокачественных образований. Из злокачественных образований чаще всего встречаются рак молочной и щитовидной желез, колоректальный рак, почечно-клеточная карцинома и рак эндометрия. Доказано, что карцинома щитовидной железы имеет более ранний возраст манифестации и зачастую встречается уже в детском возрасте. Это определяет необходимость скрининга пациентов с доказанной мутацией в гене PTEN на наличие узловых образований с раннего возраста. При необходимости выполнения хирургического лечения предпочтительным остается тиреоидэктомия в связи с частыми рецидивами узлообразования, а также неопределенным потенциалом злокачественности ввиду малой изученности узлов щитовидной железы у пациентов с мутациями в гене PTEN.

Cowden disease (Cowden syndrome) refers to PTEN-associated hamartoma tumor syndromes. It arises due to a mutation in the phosphatase and tensin homolog gene, one of the main functions of which is cell cycle regulation. The presence of a mutation in the gene leads to uncontrolled cell growth, and patients have a lifelong increased risk of neoplasms of various degrees of malignancy. This article presents a clinical case of Cowden syndrome with an early debut at the age of 7 years. The combination of macrocephaly (SDS of head circumference >2) with various skin manifestations (facial trichilemmomas, acral keratosis, papillomatous papules) and the presence of benign and/or malignant neoplasms are pathognomonic for Cowden syndrome. Of the malignancies, breast and thyroid cancer, colorectal cancer, renal cell carcinoma, and endometrial cancer are the most common. Thyroid carcinoma has been shown to have an earlier age of manifestation and often occurs already in childhood. This determines the need to screen patients with a proven mutation in the PTEN gene for nodal neoplasms from an early age. If surgical treatment is necessary, thyroidectomy remains preferable due to the frequent recurrence of nodules, as well as the uncertain potential for malignancy due to the low study of thyroid nodules in patients with mutations in the PTEN gene.

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