{"title":"复发性 GIST 和肺软骨火腿肠瘤：不完全卡尼三联症病例报告","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":"{\"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}","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}
Recurrent GIST and pulmonary chondroid hamartoma: Case report of incomplete Carney triad
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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
