[dicer1综合征,1岁表现为生殖器胚胎性横纹肌肉瘤1例]。

I G Sichinava, E S Demina, E M Sharibzhanova, F K Ismailova, A G Gvozdkova, D O Korostin, E E Petryaykina, A N Tiulpakov
{"title":"[dicer1综合征,1岁表现为生殖器胚胎性横纹肌肉瘤1例]。","authors":"I G Sichinava, E S Demina, E M Sharibzhanova, F K Ismailova, A G Gvozdkova, D O Korostin, E E Petryaykina, A N Tiulpakov","doi":"10.14341/probl13501","DOIUrl":null,"url":null,"abstract":"<p><p>DICER1 syndrome is a rare monogenic disease with autosomal dominant inheritance. DICER1 protein is involved in the regulation of gene expression by microRNAs. Changes in the expression of DICER1 can be associated with various cancers. A 13,8-year-old girl with a history of embryonal rhabdomyosarcoma (ERMS) of uterine cervix and vagina excised at 6 months of age is presented with a thyroid follicular nodular disease (TFND). Molecular genetic examination revealed a heterozygous pathogenic variant p.Arg1003Ter in the DICER1 gene (NM_030621.4). The presented case emphasizes the importance of molecular genetic diagnosis of DICER1 syndrome in a diagnostic algorithm in the management of patients with TFND and history of malignancy. Considering ERMS of genital tract as a probable component of DICER1 syndrome it is necessary to screen for other manifestations of the disease as well.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"71 3","pages":"46-50"},"PeriodicalIF":0.0000,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12319633/pdf/","citationCount":"0","resultStr":"{\"title\":\"[DICER1-syndrome with manifestation of genital embryonal rhabdomyosarcoma in the first year of life: case report].\",\"authors\":\"I G Sichinava, E S Demina, E M Sharibzhanova, F K Ismailova, A G Gvozdkova, D O Korostin, E E Petryaykina, A N Tiulpakov\",\"doi\":\"10.14341/probl13501\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>DICER1 syndrome is a rare monogenic disease with autosomal dominant inheritance. DICER1 protein is involved in the regulation of gene expression by microRNAs. Changes in the expression of DICER1 can be associated with various cancers. A 13,8-year-old girl with a history of embryonal rhabdomyosarcoma (ERMS) of uterine cervix and vagina excised at 6 months of age is presented with a thyroid follicular nodular disease (TFND). Molecular genetic examination revealed a heterozygous pathogenic variant p.Arg1003Ter in the DICER1 gene (NM_030621.4). The presented case emphasizes the importance of molecular genetic diagnosis of DICER1 syndrome in a diagnostic algorithm in the management of patients with TFND and history of malignancy. Considering ERMS of genital tract as a probable component of DICER1 syndrome it is necessary to screen for other manifestations of the disease as well.</p>\",\"PeriodicalId\":101419,\"journal\":{\"name\":\"Problemy endokrinologii\",\"volume\":\"71 3\",\"pages\":\"46-50\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-07-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12319633/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Problemy endokrinologii\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14341/probl13501\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Problemy endokrinologii","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14341/probl13501","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

DICER1综合征是一种罕见的常染色体显性遗传的单基因疾病。DICER1蛋白参与microrna对基因表达的调控。DICER1表达的变化可能与多种癌症有关。一个13.8岁的女孩,有子宫宫颈和阴道胚胎性横纹肌肉瘤(ERMS)的病史,在6个月大时切除了甲状腺滤泡结节病(TFND)。分子遗传学检测显示DICER1基因(NM_030621.4)存在一个杂合致病变异p.a g1003ter。本病例强调DICER1综合征的分子遗传学诊断在TFND和恶性肿瘤病史患者的诊断算法中的重要性。考虑到生殖道ERMS可能是DICER1综合征的一个组成部分,有必要筛查该疾病的其他表现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[DICER1-syndrome with manifestation of genital embryonal rhabdomyosarcoma in the first year of life: case report].

DICER1 syndrome is a rare monogenic disease with autosomal dominant inheritance. DICER1 protein is involved in the regulation of gene expression by microRNAs. Changes in the expression of DICER1 can be associated with various cancers. A 13,8-year-old girl with a history of embryonal rhabdomyosarcoma (ERMS) of uterine cervix and vagina excised at 6 months of age is presented with a thyroid follicular nodular disease (TFND). Molecular genetic examination revealed a heterozygous pathogenic variant p.Arg1003Ter in the DICER1 gene (NM_030621.4). The presented case emphasizes the importance of molecular genetic diagnosis of DICER1 syndrome in a diagnostic algorithm in the management of patients with TFND and history of malignancy. Considering ERMS of genital tract as a probable component of DICER1 syndrome it is necessary to screen for other manifestations of the disease as well.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信