The pathological and molecular genetic landscape of the hereditary renal cancer predisposition syndromes

Histopathology. 2022 Jul;81(1):15-31. doi: 10.1111/his.14641. Epub 2022 Apr 11.

Abstract

It is estimated that 5-8% of renal tumours are hereditary in nature, with many inherited as autosomal-dominant. These tumours carry a unique spectrum of pathological and molecular alterations, the knowledge of which has expanded in recent years. Due to this knowledge, many advances in the treatment of these tumours have been achieved. In this review, we summarize the current understanding of the genetic renal neoplasia syndromes, clinical and pathological presentations, molecular pathogenesis, advances in therapeutic implications and targeted therapy.

Keywords: differential diagnosis; hereditary renal cancer syndromes; kidney; molecular genetics; personalized medicine; targeted therapy; von Hippel-Lindau disease.

Publication types

  • Review

MeSH terms

  • Carcinoma, Renal Cell* / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Kidney Neoplasms* / genetics
  • Kidney Neoplasms* / therapy
  • Molecular Biology
  • Neoplastic Syndromes, Hereditary* / genetics
  • von Hippel-Lindau Disease* / complications
  • von Hippel-Lindau Disease* / genetics
  • von Hippel-Lindau Disease* / therapy