Birt-Hogg-Dubé Syndrome Articles


  • Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights.

    Hereditary cases account for about 5% of all cases of renal cell carcinoma (RCC). With advances in next-generation sequencing, several new hereditary syndromes have been described in the last few years.

    Published August 8, 2019
  • Genetic predisposition to kidney cancer.

    Kidney cancer is not a single disease but is made up of a number of different types of cancer classified by histology that are disparate in presentation, clinical course, and genetic basis. Studies of families with inherited renal cell carcinoma (RCC) have provided the basis for our understanding of the causative genes and altered metabolic pathways in renal cancer with different histologies.

    Published December 8, 2016
  • Imaging for Screening and Surveillance of Patients with Hereditary Forms of Renal Cell Carcinoma.

    To summarize the literature providing the basic genetic and clinical characteristics of renal cell carcinoma (RCC) familial syndromes, as well as to describe associated unique imaging characteristics and appropriate imaging protocols.

    Published August 24, 2018
  • The ABCs of BHD: An In-Depth Review of Birt-Hogg-Dubé Syndrome.

    Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant inherited syndrome involving multiple organs. In young patients, renal neoplasms that are multiple, bilateral, or both, such as oncocytomas, chromophobe renal cell carcinoma (RCC), hybrid chromophobe RCC-oncocytomas, clear cell RCC, and papillary RCC, can suggest BHD syndrome.

    Published October 12, 2017