N. V. Ivanova, E. Zelenova, V. Polyakov, A. Y. Lozovaya, V. V. Semenova, V. M. Kozlova, V. A. Korolev, T. Ushakova, T. R. Panferova, N. A. Kozlov, A. S. Bidulya, S. Mikhailova, M. Rubanskaya, S. Varfolomeeva
{"title":"伴有甲状腺病变的家族性 DICER1 综合征。一系列临床病例","authors":"N. V. Ivanova, E. Zelenova, V. Polyakov, A. Y. Lozovaya, V. V. Semenova, V. M. Kozlova, V. A. Korolev, T. Ushakova, T. R. Panferova, N. A. Kozlov, A. S. Bidulya, S. Mikhailova, M. Rubanskaya, S. Varfolomeeva","doi":"10.21682/2311-1267-2023-10-4-49-60","DOIUrl":null,"url":null,"abstract":"Thyroid diseases in childhood occupy the second place after obesity in the structure of the general pathology of the endocrine system, eating disorders and metabolic disorders in children in the Russian Federation. Thyroid cancer in children makes up from 1.5 to 3 % of all malignant tumors, and from 8 to 22 % of malignant solid tumors of the head and neck, and the younger the child’s age, the more aggressive the disease proceeds.Familial forms of thyroid diseases may be associated with geographical features (living in iodine-deficient regions), but may also be part of hereditary syndromes, such as: multiple endocrine neoplasia syndromes (Sipple syndrome, Gorner syndrome, familial medullary thyroid cancer), DICER1 syndrome, Gardner syndrome, Cowden syndrome, McCune–Albright–Braitsev syndrome et al.This article describes several cases of thyroid pathology associated with DICER1 syndrome.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":" November","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Familial DICER1 syndrome with thyroid pathology. A series of clinical cases\",\"authors\":\"N. V. Ivanova, E. Zelenova, V. Polyakov, A. Y. Lozovaya, V. V. Semenova, V. M. Kozlova, V. A. Korolev, T. Ushakova, T. R. Panferova, N. A. Kozlov, A. S. Bidulya, S. Mikhailova, M. Rubanskaya, S. Varfolomeeva\",\"doi\":\"10.21682/2311-1267-2023-10-4-49-60\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Thyroid diseases in childhood occupy the second place after obesity in the structure of the general pathology of the endocrine system, eating disorders and metabolic disorders in children in the Russian Federation. Thyroid cancer in children makes up from 1.5 to 3 % of all malignant tumors, and from 8 to 22 % of malignant solid tumors of the head and neck, and the younger the child’s age, the more aggressive the disease proceeds.Familial forms of thyroid diseases may be associated with geographical features (living in iodine-deficient regions), but may also be part of hereditary syndromes, such as: multiple endocrine neoplasia syndromes (Sipple syndrome, Gorner syndrome, familial medullary thyroid cancer), DICER1 syndrome, Gardner syndrome, Cowden syndrome, McCune–Albright–Braitsev syndrome et al.This article describes several cases of thyroid pathology associated with DICER1 syndrome.\",\"PeriodicalId\":52396,\"journal\":{\"name\":\"Russian Journal of Pediatric Hematology and Oncology\",\"volume\":\" November\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Russian Journal of Pediatric Hematology and Oncology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.21682/2311-1267-2023-10-4-49-60\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Russian Journal of Pediatric Hematology and Oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21682/2311-1267-2023-10-4-49-60","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Familial DICER1 syndrome with thyroid pathology. A series of clinical cases
Thyroid diseases in childhood occupy the second place after obesity in the structure of the general pathology of the endocrine system, eating disorders and metabolic disorders in children in the Russian Federation. Thyroid cancer in children makes up from 1.5 to 3 % of all malignant tumors, and from 8 to 22 % of malignant solid tumors of the head and neck, and the younger the child’s age, the more aggressive the disease proceeds.Familial forms of thyroid diseases may be associated with geographical features (living in iodine-deficient regions), but may also be part of hereditary syndromes, such as: multiple endocrine neoplasia syndromes (Sipple syndrome, Gorner syndrome, familial medullary thyroid cancer), DICER1 syndrome, Gardner syndrome, Cowden syndrome, McCune–Albright–Braitsev syndrome et al.This article describes several cases of thyroid pathology associated with DICER1 syndrome.