Metastatic Clear Cell-Renal Cell Carcinoma in Birt-Hogg-Dube Syndrome-Reference-Cited by-同舟云学术

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

Published:2023-09 Issue:9 Volume:1 Page:
ISSN:2771-554X
Container-title:JU Open Plus
language:en
Short-container-title:

Author:

Cohen Ariel T.¹,Hamouda Danae M.¹²,Jerew Katherine S.¹³,Blomquist Thomas M.¹³,Petros Firas G.¹⁴^ORCID

Affiliation:

1. The University of Toledo College of Medicine and Life Sciences, Toledo, Ohio

2. Department of Medicine, Division of Hematology and Oncology, The University of Toledo College of Medicine and Life Sciences, Toledo, Ohio

3. Department of Pathology, The University of Toledo College of Medicine and Life Sciences, Toledo, Ohio

4. Department of Urology, The University of Toledo College of Medicine and Life Sciences, Toledo, Ohio

Abstract

Abstract 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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Reference12 articles.

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