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Familial adult renal neoplasia
  1. M Takahashi1,2,
  2. R Kahnoski3,
  3. D Gross4,
  4. D Nicol5,
  5. B T Teh1
  1. 1Laboratory of Cancer Genetics, Van Andel Research Institute, Grand Rapids, MI 49503, USA
  2. 2Department of Urology, School of Medicine, The University of Tokushima, Japan
  3. 3Division of Urology, Spectrum Health Butterworth, Grand Rapids, MI, USA
  4. 4Department of Endocrinology and Metabolism, Hadassah University Hospital, Jerusalem, Israel 91120
  5. 5Department of Urology, Princess Alexandra Hospital, Brisbane, Australia 4102
  1. Correspondence to:
 Dr B T Teh, Laboratory of Cancer Genetics, Van Andel Research Institute, 333 Bostwick NE, Grand Rapids, MI-49503, USA;


Our understanding of the molecular mechanisms underlying the tumorigenesis of renal cell carcinoma (RCC) has partially come from studies of RCC related familial cancer syndromes such as von Hippel-Lindau (VHL) disease and hereditary papillary RCC (HPRC). These studies have led to the identification of RCC related genes, which, besides allowing accurate diagnosis of these diseases, have been found mutated or abnormally expressed in the sporadic counterparts of these familial renal tumours. To date, a number of renal tumour related syndromes have been described. We review recent advances in this field and discuss a genetic approach to managing familial cases of renal tumours occasionally encountered by cancer geneticists and urologists.

  • hereditary
  • kidney tumours
  • syndromes
  • RCC, renal cell carcinoma
  • VHL, von Hippel-Lindau disease
  • HPRC, hereditary papillary renal cell carcinoma
  • PRCC, sporadic papillary renal cell carcinoma
  • CCRCC, clear cell renal cell carcinoma
  • LOH, loss of heterozygosity
  • HPT-JT, hyperparathyroidism-jaw tumour
  • TSC, tuberous sclerosis complex
  • BHD, Birt-Hogg-Dubé syndrome
  • HLRCC, hereditary leiomyomatosis and renal cell cancer
  • FPTC-PRN, familial papillary thyroid carcinoma-papillary renal neoplasia
  • FO, familial oncocytoma
  • HNPCC, hereditary non-polyposis colorectal cancer

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