Abstract
It is estimated that up to 2% of renal cell cancer (RCC) clusters in families. Several forms of hereditary RCC have been characterized with specific clinical, histopathological, and genetic features. The most common of these is von Hippel-Lindau (VHL) disease caused by mutations in the VHL gene and predisposing to clear cell RCC. Predisposition to papillary RCC is present in hereditary leiomyomatosis and renal cell cancer (HLRCC) and hereditary papillary renal cell carcinoma (HPRC). Identification of the genetic defects causing these diseases has enlightened the molecular pathogenesis of RCC, and moreover, provided means to improve patient management. Genetic testing enables early diagnosis of the disease, after which individuals at-risk can be guided to regular surveillance. Screening facilitates detection of presymptomatic early tumors broadening treatment options and potentially improving prognosis. Thus, identification of individuals with inherited cancer susceptibility is important as special management of these patients improves disease outcome. The purpose of this review is to provide clues for identification and management of hereditary renal cancer patients in clinical practice.
Highlights
On cellular level, cancer is a genetic disease caused by mutations accumulating in the genes controlling cell proliferation and cell death
The changes include either inactivation of tumor suppressor genes or activation of oncogenes
Predisposition to cancer is high in hereditary cancer syndromes, which are generally estimated to account for only a fraction of human cancers, < 1–10 % depending on the tumor type
Summary
Most of the mutations in cancer genes are somatic, i.e. they occur during the lifetime of an individual. DIAGNOSIS AND GENETIC COUNSELLING Recent studies have shown that inherited high-risk predisposition to RCC is rare, occurring in about 2 % of cases [3, 4], it is likely that presently unknown low-risk susceptibility genes may underlie a much larger proportion of RCC [50] This is suggested by the finding that first degree relatives (parents and sibs) of patients have a higher risk of RCC compared to general population [50,51,52]. Radical nephrectomy must be performed shortly after detection of renal tumor in HLRCC patients In conditions such as VHL, HPRC and BHD, where multiple bilateral tumors are common but usually not very aggressive by nature, nephron sparing surgery is the primary choice. It has been shown in several studies that at least in VHL and HPRC, using tumor size of 3 cm as the threshold for nephron sparing surgery will allow effective therapeutic procedure to minimize the risk for metastatic disease while maximizing the remaining renal function [60,61,62,63]
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