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Abstract
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