perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2024-69-6-85-90perinatology-2095Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESКлинический случай папиллярного рака щитовидной железы, ассоциированного с дефектом гена PTENA clinical case of papillary thyroid cancer associated with a PTEN gene defecthttps://orcid.org/0000-0001-5811-0024АтанесянР. А.AtanesyanR. A.

Атанесян Роза Артуровна — к.м.н., доц. кафедры эндокринологии и детской эндокринологии с курсом дополнительного профессионального образования; врач–детский эндокринолог

355017 Ставрополь, улица Мира, д. 310

Stavropol 

https://orcid.org/0000-0001-7248-1614КлимовЛ. Я.KlimovL. Ja.

Климов Леонид Яковлевич — д.м.н., проф., зав. кафедрой факультетской педиатрии

355017 Ставрополь, улица Мира, д. 310

Stavropol 

https://orcid.org/0000-0002-0355-3116ВдовинаТ. М.VdovinaT. M.

Вдовина Татьяна Михайловна — к.м.н., врач-генетик

355029 Ставрополь, ул. Семашко, д. 3/1

Stavropol 

https://orcid.org/0000-0002-0489-254XСанееваГ. А.SaneevaG. A.

Санеева Галина Александровна — к.м.н., доц., зав. кафедрой эндокринологии и детской эндокринологии с курсом дополнительного профессионального образования

355017 Ставрополь, улица Мира, д. 310

Stavropol 

https://orcid.org/0000-0003-0034-8616АндрееваЕ. И.AndreevaE. I.

Андреева Елена Ивановна — к.м.н., доц. кафедры эндокринологии и детской эндокринологии с курсом дополнительного профессионального образования

355017 Ставрополь, улица Мира, д. 310

Stavropol 

https://orcid.org/0009-0004-1415-2838СтременковаИ. А.StremenkovaI. A.

Стременкова Инна Алексеевна — к.м.н., доц. кафедры факультетской педиатрии

355017 Ставрополь, улица Мира, д. 310

Stavropol 

https://orcid.org/0000-0001-5680-1999АракелянР. И.ArakelyanR. I.

Аракелян Рафаэл Иссакович — асс. кафедры эндокринологии и детской эндокринологии с курсом дополнительного профессионального образования

355017 Ставрополь, улица Мира, д. 310

Stavropol 

https://orcid.org/0009-0008-6596-8334ГаспарянИ. К.GasparyanI. K.

Гаспарян Илона Кимовна — студентка VI курса педиатрического факультета

355017 Ставрополь, улица Мира, д. 310

Stavropol 

ФГБОУ ВО «Ставропольский государственный медицинский университет» Минздрава России; ГБУЗ СК «Краевой эндокринологический диспансер»РоссияStavropol State Medical University; Regional Endocrinological DispensaryRussian FederationФГБОУ ВО «Ставропольский государственный медицинский университет» Минздрава РоссииРоссияStavropol State Medical UniversityRussian FederationГБУЗ СК «Краевой клинический перинатальный центр №1»РоссияRegional Clinical Perinatal Center №1Russian Federation2024030120256968590Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20242024Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/2095

Частота развития злокачественных новообразований при единичном узле щитовидной железы у детей выше, чем у взрослых. Очевидно, что диагностика узловой патологии щитовидной железы в педиатрической практике требует особого внимания. Клинический анамнез должен включать оценку факторов риска развития злокачественных новообразований и семейный анамнез. Опухоли щитовидной железы могут наблюдаться при определенных синдромах, таких как комплекс Карни, семейный аденоматозный полипоз и синдромы Коудена, DICER1, Вернера, МакКьюна–Олбрайта и Ли–Фраумени. В статье представлен случай диагностики высокодифференцированной опухоли щитовидной железы у мальчика 15 лет. Характерные морфологические особенности послеоперационного материала позволили определить у пациента показания к молекулярно-генетическому исследованию. В процессе генетического анализа идентифицирована мутация гена, ответственного за регуляцию клеточного апоптоза. Тем самым, результаты позволили предположить у мальчика синдром Коудена. Синдром Коудена — редкий синдром, ассоциированный с мутацией гена PTEN, характеризующийся множественными гамартомами в любых органах. Мутации гена PTEN становятся причиной поражения кожи и слизистых оболочек, щитовидной железы и фиброзно-кистозной мастопатии.

The incidence of malignant neoplasms associated with solitary thyroid nodules is higher in children than in adults. The diagnosis of nodular thyroid pathology in pediatric practice clearly requires particular attention. Clinical history should include an assessment of risk factors for malignant tumors and a family history. Thyroid tumors are observed in certain syndromes, such as Carney complex, familial adenomatous polyposis, and Cowden, DICER1, Werner, McCune–Albright, and Li–Fraumeni syndromes. This article presents a case of a highly differentiated thyroid tumor diagnosed in a 15-year-old boy. The distinct morphological features of the postoperative tissue indicated the need for molecular genetic testing in this patient. Genetic analysis revealed a mutation in a gene responsible for regulating cellular apoptosis, suggesting a diagnosis of Cowden syndrome in the patient. Cowden syndrome is a rare disorder associated with a mutation in the PTEN gene, characterized by multiple hamartomas in various organs. PTEN gene mutations lead to lesions in the skin, mucous membranes, thyroid gland, and fibrocystic mastopathy.

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