{"title":"Recurrent GIST and pulmonary chondroid hamartoma: Case report of incomplete Carney triad","authors":"B.P.C. Hoppe , A.J. Breugom , H. Dik","doi":"10.1016/j.rare.2024.100038","DOIUrl":null,"url":null,"abstract":"<div><p>The Carney triad describes the association of chondroid hamartoma, GIST (gastrointestinal stromal tumor) and paraganglioma. The Carney triad affects mainly (young) women, is not inherited and probably caused by deficiency of the succinate dehydrogenase (SDH) enzyme. Deficiency of SDH-enzyme leads to hypermethylation of the whole genome in Carney triad associated tumors. This case demonstrates a woman with an incomplete Carney triad presenting with a recurrent GIST and symptomatic giant pulmonary chondroid hamartoma.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100038"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000218/pdfft?md5=60198de33329fec206695b252062d6d6&pid=1-s2.0-S2950008724000218-main.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rare","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2950008724000218","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
The Carney triad describes the association of chondroid hamartoma, GIST (gastrointestinal stromal tumor) and paraganglioma. The Carney triad affects mainly (young) women, is not inherited and probably caused by deficiency of the succinate dehydrogenase (SDH) enzyme. Deficiency of SDH-enzyme leads to hypermethylation of the whole genome in Carney triad associated tumors. This case demonstrates a woman with an incomplete Carney triad presenting with a recurrent GIST and symptomatic giant pulmonary chondroid hamartoma.
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