[Hereditary renal cell carcinomas]

Pathologe. 2010 Oct;31(6):455-63. doi: 10.1007/s00292-010-1357-3.
[Article in German]

Abstract

Renal cell carcinomas occur in several hereditary tumor syndromes. These renal tumors frequently have a specific histopathological appearance which can be a sign for a hereditary cause of the disease. The genetic alterations responsible for most of these tumor syndromes were identified in recent years. Interestingly, renal cell carcinomas show specific histopathological features in each of the hereditary renal cancer syndromes. Clear cell and often cystic renal cell carcinomas occur in von Hippel-Lindau syndrome (VHL), while oncocytomas and chromophobe renal cell carcinomas are found in the Birt-Hugg-Dube syndrome, often also as hybrid tumors. Well differentiated papillary carcinomas (Type 1 according to the WHO) are found in the hereditary papillary renal cell carcinoma (HPRC). In contrast, poorly diffentiated papillary renal cell carcinomas (Type 2 according to the WHO) occur in combination with leiomyomas and leiomyosarcomas of the skin and uterus in hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC). The various genetic causes for these hereditary tumor syndromes open up new therapeutic possibilities, some of which are already being investigated in clinical studies.

Publication types

  • English Abstract

MeSH terms

  • Carcinoma, Renal Cell / complications
  • Carcinoma, Renal Cell / epidemiology
  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology
  • Chromosomes, Human
  • Female
  • Germany / epidemiology
  • Humans
  • Kidney Neoplasms / complications
  • Kidney Neoplasms / epidemiology
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Leiomyoma / complications
  • Leiomyoma / pathology
  • Leiomyosarcoma / complications
  • Leiomyosarcoma / pathology
  • Mutation
  • Uterine Neoplasms / complications
  • Uterine Neoplasms / pathology
  • von Hippel-Lindau Disease / complications
  • von Hippel-Lindau Disease / genetics