Arch Esp Urol 2017 Sep;70(7):675-678
Department of Urology. La Paz University Hospital. Madrid. Spain.
Int J Urol 2016 Mar 25;23(3):204-10. Epub 2015 Nov 25.
Department of Urology, Yokohama City University School of Medicine, Yokohama, Kanagawa, Japan.
Birt-Hogg-Dubé syndrome is an autosomal dominantly inherited disease that predisposes patients to develop fibrofolliculoma, lung cysts and bilateral multifocal renal tumors, histologically hybrid oncocytic/chromophobe tumors, chromophobe renal cell carcinoma, oncocytoma, papillary renal cell carcinoma and clear cell renal cell carcinoma. The predominant forms of Birt-Hogg-Dubé syndrome-associated renal tumors, hybrid oncocytic/chromophobe tumors and chromophobe renal cell carcinoma are typically less aggressive, and a therapeutic principle for these tumors is a surgical removal with nephron-sparing. The timing of surgery is the most critical element for postoperative renal function, which is one of the important prognostic factors for Birt-Hogg-Dubé syndrome patients. Read More
Cancer Sci 2015 Mar 17;106(3):315-23. Epub 2015 Feb 17.
Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Birt-Hogg-Dubé syndrome (BHD) is an inherited disorder associated with a germline mutation of the folliculin gene (FLCN). The affected families have a high risk for developing multiple renal cell carcinomas (RCC). Diagnostic markers that distinguish between FLCN-related RCC and sporadic RCC have not been investigated, and many patients with undiagnosed BHD fail to receive proper medical care. Read More
Hum Pathol 2016 06 4;52:74-82. Epub 2016 Feb 4.
Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. Electronic address:
Birt-Hogg-Dubé syndrome (BHD) is a familial disorder associated with a germline mutation of FLCN that is a tumor suppressor gene. Patients with BHD have high risks for developing multiple renal cell carcinomas (RCCs). The frequent histological types are hybrid oncocytic/chromophobe tumors (HOCTs) and chromophobe RCCs. Read More
Fam Cancer 2016 Jan;15(1):127-32
Genetic Center of the Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.
Germline mutation of the FLCN gene causes Birt-Hogg-Dubé syndrome (BHD), a rare autosomal dominant condition characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal tumours. We identified a hitherto unreported pathogenic FLCN frameshift deletion c.563delT (p. Read More