Jessica Y. Wong, Alex Henderson, Simon Harper, Richard W. Carroll, Peter B. Bethwaite, Esko Wiltshire
{"title":"Identification of DICER1 Syndrome on the Basis of Familial, Early-Onset Differentiated Thyroid Cancer","authors":"Jessica Y. Wong, Alex Henderson, Simon Harper, Richard W. Carroll, Peter B. Bethwaite, Esko Wiltshire","doi":"10.1002/ccr3.70295","DOIUrl":null,"url":null,"abstract":"<p>DICER1 syndrome encompasses a wide range of phenotypes, and not all individuals with DICER1 syndrome develop aggressive soft tissue tumors. DICER1 syndrome and other genetic conditions predisposing to the development of thyroid tumors should be considered when a young patient presents with thyroid nodules and a positive family history.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 4","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70295","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/ccr3.70295","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
DICER1 syndrome encompasses a wide range of phenotypes, and not all individuals with DICER1 syndrome develop aggressive soft tissue tumors. DICER1 syndrome and other genetic conditions predisposing to the development of thyroid tumors should be considered when a young patient presents with thyroid nodules and a positive family history.
期刊介绍:
Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).