Hereditary renal cell carcinoma surveillance protocols: a review of the literature and proposed recommendations.

Hereditary renal cell carcinoma (hRCC) syndromes represent a small but significant proportion of renal cancer cases, accounting for 5-8%. They are characterized by distinct genetic etiologies, early-onset presentations, and unique clinical features. Timely identification and surveillance of at-risk individuals are essential to improving outcomes, as early detection facilitates interventions at a localized stage. However, existing recommendations are highly variable and often lack robust evidence. This extensive review consolidates current knowledge on major hRCC syndromes, namely the von Hippel-Lindau (VHL) disease, hereditary papillary renal carcinoma (HPRC), fumarate hydratase deficient RCC (FHRCC), and Birt-Hogg-Dubé (BHD) syndrome, and their associated screening protocols. Through a comprehensive literature review, we summarize the cumulative risks, tumor growth patterns, and imaging recommendations for each syndrome, highlighting the challenges posed by their rarity and heterogeneous presentations. Based on these findings, we propose a standardized surveillance protocol tailored to each syndrome's risk profile, balancing early detection with the minimization of patient burden and healthcare costs. These recommendations emphasize the importance of multidisciplinary management in tertiary care centers to ensure optimal outcomes.