There are several well-described hereditary renal cancer syndromes, such as von Hippel-Lindau disease (VHL), a hereditary syndrome that may lead to the development of renal cell carcinoma (RCC). Patients with VHL have a lifetime risk of RCC of approximately 70%, and the average age at diagnosis is 40 to 45 years. Clear-cell RCC tumours in patients with VHL are usually low grade and discovered at an early stage, allowing for close monitoring and/or surgery to remove them. Diagnosis of VHL is, therefore, important for the management of RCC.
There are some recently identified hereditary syndromes, such as SDH, BAP1, and MITF, although these syndromes appear to be associated with a lower incidence of RCC and the full clinical spectra for these syndromes are yet to be defined. Preclinical and clinical studies using systemic therapy to target specific genetic pathways have shown this to be a promising treatment strategy. Identification of these syndromes may play an important role in the management of RCC and selection of systemic treatment.