Birt-Hogg-Dube综合征转移性透明细胞肾细胞癌

JU open plus Pub Date : 2023-09-01 DOI:10.1097/ju9.0000000000000045

Ariel T. Cohen, Danae M. Hamouda, Katherine S Jerew, Thomas M. Blomquist, Firas G. Petros

{"title":"Birt-Hogg-Dube综合征转移性透明细胞肾细胞癌","authors":"Ariel T. Cohen, Danae M. Hamouda, Katherine S Jerew, Thomas M. Blomquist, Firas G. Petros","doi":"10.1097/ju9.0000000000000045","DOIUrl":null,"url":null,"abstract":"\n The Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant genodermatosis harboring a mutated gene encoding for a protein known as folliculin. BHD is associated with increased risk of renal cell carcinoma (RCC), especially chromophobe/oncocytic hybrid tumors. The mutations driving clear cell RCC (ccRCC) in BHD remain investigational. We describe a case of BHD syndrome with a metachronous metastatic ccRCC and genomic alterations.","PeriodicalId":74033,"journal":{"name":"JU open plus","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Metastatic Clear Cell-Renal Cell Carcinoma in Birt-Hogg-Dube Syndrome\",\"authors\":\"Ariel T. Cohen, Danae M. Hamouda, Katherine S Jerew, Thomas M. Blomquist, Firas G. Petros\",\"doi\":\"10.1097/ju9.0000000000000045\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\\n The Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant genodermatosis harboring a mutated gene encoding for a protein known as folliculin. BHD is associated with increased risk of renal cell carcinoma (RCC), especially chromophobe/oncocytic hybrid tumors. The mutations driving clear cell RCC (ccRCC) in BHD remain investigational. We describe a case of BHD syndrome with a metachronous metastatic ccRCC and genomic alterations.\",\"PeriodicalId\":74033,\"journal\":{\"name\":\"JU open plus\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JU open plus\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1097/ju9.0000000000000045\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JU open plus","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/ju9.0000000000000045","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 1

摘要

Birt-Hogg-Dube（BHD）综合征是一种常染色体显性遗传性皮肤病，携带一种编码毛囊素蛋白的突变基因。BHD与肾细胞癌（RCC）的风险增加有关，尤其是嫌色/嗜酸细胞混合瘤。BHD中驱动透明细胞RCC（ccRCC）的突变仍在研究中。我们描述了一例BHD综合征伴异时转移性ccRCC和基因组改变的病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Metastatic Clear Cell-Renal Cell Carcinoma in Birt-Hogg-Dube Syndrome

The Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant genodermatosis harboring a mutated gene encoding for a protein known as folliculin. BHD is associated with increased risk of renal cell carcinoma (RCC), especially chromophobe/oncocytic hybrid tumors. The mutations driving clear cell RCC (ccRCC) in BHD remain investigational. We describe a case of BHD syndrome with a metachronous metastatic ccRCC and genomic alterations.

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

JU open plus

自引率

0.00%

发文量