Hereditary Renal Mass Syndromes: a Pictorial Review

Hereditary renal mass syndromes, although rare, account for at least 3-5% of kidney cancers and significantly impact affected families. Accurate diagnosis and management by radiologists are crucial as these syndromes often present at imaging with both renal and extra-renal manifestations. The radiologist may be the first to recognize these stigmata at imaging, some of which satisfy major features for diagnosis and obviate the need for genetic testing. Furthermore, radiologists contribute to lifelong imaging surveillance and locoregional treatment. This pictorial review discusses the following major hereditary renal mass syndromes with their typical renal mass appearance, extrarenal manifestations, inheritance pattern, diagnosis, and management strategies based on the most recent National Comprehensive Cancer Network guidelines: Von Hippel-Lindau syndrome, tuberous sclerosis complex, Birt-Hogg-Dube syndrome, hereditary paraganglioma/pheochromocytoma (PGL/PCC) syndrome/succinate dehydrogenase deficiency, hereditary leiomyomatosis and renal cell cancer (HLRCC)/fumarate hydratase deficiency, PTEN hamartoma syndrome, BRCA1-associated protein 1 (BAP1) tumor disposition syndrome, hereditary papillary renal cell carcinoma, and familial clear cell renal cell cancer with chromosome 3 translocation.