Renal cell cancers: unveiling the hereditary ones and saving lives-a tailored diagnostic approach

Int Urol Nephrol. 2017 Sep;49(9):1507-1512. doi: 10.1007/s11255-017-1625-8. Epub 2017 May 31.

Abstract

The prevalence of RCC in Europe is 2-3% and increasing every year. Hereditary predisposition is found in 5-8% of all RCC cases. Hereditary syndromes associated with RCC include: Von Hippel-Lindau, hereditary papillary renal cell carcinoma, Birt-Hogg-Dube', hereditary leiomyomatosis, succinate dehydrogenase's deficiency, tuberous sclerosis complex and Cowden's syndrome. These syndromes are related to specific genetic mutations. So far the European Association of Urology and American Urological Association have not established guidelines for referral of patients with RCC for germline mutation screening. The scope of this article is to review which clinical manifestations should direct clinicians' thinking towards hereditary kidney carcinomas and therefore suggest which patients could benefit from genetic testing.

Keywords: Genetic counseling; Genetic testing; Germline mutation; Kidney neoplasms; Renal cell carcinoma; Von Hippel–Lindau.

Publication types

  • Review

MeSH terms

  • Birt-Hogg-Dube Syndrome / diagnosis
  • Birt-Hogg-Dube Syndrome / genetics
  • Carcinoma, Renal Cell / genetics*
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Humans
  • Kidney Neoplasms / genetics*
  • Leiomyomatosis / diagnosis
  • Leiomyomatosis / genetics
  • Neoplastic Syndromes, Hereditary / diagnosis
  • Neoplastic Syndromes, Hereditary / genetics
  • Practice Guidelines as Topic
  • Referral and Consultation
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / genetics
  • Succinate Dehydrogenase / deficiency
  • Succinate Dehydrogenase / genetics
  • Uterine Neoplasms / diagnosis
  • Uterine Neoplasms / genetics
  • von Hippel-Lindau Disease / diagnosis
  • von Hippel-Lindau Disease / genetics

Substances

  • Succinate Dehydrogenase

Supplementary concepts

  • Hereditary leiomyomatosis and renal cell cancer