Hereditary renal cell carcinoma syndromes

Česká verzia

Authors: Jiří Kolář ¹; Tomáš Pitra ¹; Kristýna Pivovarčíková ²; Radka Jaklová ³; Tomáš Zavoral ³; Ivan Trávníček ¹; Hana Sedláčková ¹; Kristýna Procházková ⁴; Tomáš Vaneček ²; Ondřej Hes ²; Milan Hora ¹
Authors place of work: Urologická klinika LF UK a FN Plzeň ¹; Šiklův ústav patologie LF UK a FN Plzeň ²; Ústav lékařské genetiky LF UK a FN Plzeň ³; Chirurgická klinika LF UK a FN Plzeň ⁴
Published in the journal: Ces Urol 2020; 24(1): 26-41
Category: Review article

Summary

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 syn‑ dromes 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

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