Ces Urol 2020, 24(1):26-41 | DOI: 10.48095/cccu2020005

Hereditary renal cell carcinoma syndromes

Jiří Kolář¹, Tomáš Pitra¹, Kristýna Pivovarčíková², Radka Jaklová³, Tomáš Zavoral³, Ivan Trávníček¹, Hana Sedláčková¹, Kristýna Procházková⁴, Tomáš Vaněček², Ondřej Hes², Milan Hora¹

¹ Urologická klinika LF UK a FN Plzeň

² Šiklův ústav patologie LF UK a FN Plzeň

³ Ústav lékařské genetiky LF UK a FN Plzeň

⁴ Chirurgická klinika LF UK a FN Plzeň

Kolář J, Pitra T, Pivovarčíková K, Jaklová R, Zavoral T, Trávníček I, Sedláčková H, Procházková K, Vaněček T, Hes O, Hora M. Hereditary renal cell carcinoma syndromes. In recent years, there has been an increase in the number of defined hereditary syndromes, some of which may predispose to kidney cancer. Hereditary renal cell carcinoma syndromes are often suggested by early age of onset, family history of kidney cancer, multifocal or bilateral lesions and the presence of other extrarenal lesions typical for the respective syndrome. The most common encountered syndromes are von Hippel Lindau, Birt-Hogg-Dubé, hereditary papillary renal cell carcinoma, hereditary leiomyomatosis and renal cell carcinoma, succinate dehydrogenase deficient renal cell carcinoma, tuberous sclerosis complex and Cowden syndrome. Related to hereditary renal cancer syndromes, germline mutations in tumor suppressor genes (VHL, BAP1, PTEN, TSC1, TSC2) and protooncogenes (MET) are described. Different histological subtypes are found among hereditary kidney cancer syndromes. The degree of kidney cancer penetrance, tumor aggressiveness, metastatic potential widely vary and the treatment and surveillance of kidney cancer is different among hereditary syndromes.

Keywords: Genetics, germline mutation, hereditary syndrome, renal cell carcinoma, surveillance.

Received: November 3, 2019; Revised: January 21, 2020; Accepted: January 24, 2020; Prepublished online: January 25, 2020; Published: March 19, 2020