Abstract
A review of recent knowledge on heredital syndromes related to renal cell carcinoma. Aim of this review was to summarize the recent knowledge of genetic syndromes associated with renal cell carcinoma. Summary of incidence and factors modulating risk of hereditary renal cell carcinoma development. Hereditary forms of RCC are relatively rare. Their study is beneficial in many ways. In individuals at a higher risk of a hereditary syndrome, the knowledge of hereditary forms may help to significantly decrease the impact of the hereditary disease. In the general population, knowledge acquired by the study of hereditary forms of RCC may in the future contribute to both diagnosis and treatment of sporadic tumours.
Highlights
Kidney cancer belongs to 16 most frequent malignancies in the Czech Republic and globally
Renal cell carcinoma (RCC) is not a single entity but rather a group of tumours originating from kidney epithelium[2]
RCC originates from the tubular structures of the kidney and is classified into 4 main histological types
Summary
Kidney cancer belongs to 16 most frequent malignancies in the Czech Republic and globally. About 25–35% (ref.13) of patients with BHD syndrome develop various types of renal tumours[13,25,26,27]. Familial RCC of as yet unknown genetic cause Familial ccRCC is defined as the development of ccRCC in two or more members of the same family, in whom VHL disease and constitutional chromosome 3 translocation have been ruled out[38,39,7,14] This type of tumour is associated with a very low frequency (over 70 families have been reported). Hereditary paraganglioma/pheochromocytoma Originally, two families with hereditary paragangliomas were found to have a higher prevalence of ccRCC In those persons, three out of four genes encoding succinate dehydrogenase, a Krebs cycle enzyme, were mutated (SDHB, SDHC, SDHD) (ref.[47]). Due to the low frequency (only about 20 cases are known), the exact prevalence of the syndrome has not been determined
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