This review provides an overview of the diagnosis, genetic abnormalities, clinical signs, and treatment options for major heritable renal cell carcinoma (RCC) syndromes.
These syndromes, typically autosomal dominant, predispose patients to early-onset RCC and may include other extrarenal manifestations. Early recognition is crucial for timely screening, early RCC detection, and optimal management of extrarenal manifestations.
Patients with these syndromes have a higher RCC risk compared to sporadic cases, with tumours often appearing earlier and being multifocal or bilateral. Surveillance is recommended until tumours reach 3 cm, with nephron-sparing surgery as the preferred treatment, except for hereditary leiomyomatosis with renal cell cancer, which requires radical nephrectomy.
Early intervention is essential due to the high incidence of early metastasis. Molecular therapies have shown favourable outcomes for patients with metastatic disease.
