According to the latest knowledge, hereditary kidney cancers may account for 5–8% of all kidney cancers, and it may be more common than previously thought. Hereditary RCC is often characterized by an early age of onset (approximately 45 years), typical histological pattern, and frequently the bilaterality and multicentricity of the primary tumor. Wilms’ tumor (nephroblastoma) is the most common kidney tumor of childhood. More than 15 syndromes with inherited susceptibility to kidney cancer are known, and there are over 25 known genes associated with them. Most of these are dominantly inherited in which the offspring of the proband has a 50% chance of inheriting a gene mutation with susceptibility to kidney cancer. The aggressiveness of hereditary RCCs and recommended surgery varies depending on the syndrome and mutation type. Also, systemic therapy may be optional. Multigene next generation sequencing (NGS) panel technology allows genes of interest to be studied quickly and cost-effectively. Sequencing investigations have improved the accuracy of hereditary cancer diagnoses. Diagnostic utility has been hugely increased by multigene NGS panels. It is important to identify hereditary cancer susceptibility, because the risk of cancer in the mutation carriers can be reduced. In this review article, the latest literature on syndromes subjecting to hereditary kidney cancer and recommended follow-up is summarized.
Part of the book: Evolving Trends in Kidney Cancer