ČESKÁ UROLOGIE / CZECH UROLOGY – 1 / 2020

39 PŘEHLEDOVÝ ČLÁNEK Ces Urol 2020; 24(1): 26–41 7. Bader HL, Hsu T. Systemic VHL gene functions and the VHL disease. FEBS Lett. 2012; 586(11): 1562–1569. 8. Richard S, Graff J, Lindau J, Resche F. Von Hippel‑Lindau disease. Lancet. 2004; 363(9416): 1231–1234. 9. Ürge T, Hora M, Toufarová P, et al. Renální karcinom u nemocných s morbus von Hippel-Lindau. Ces Urol 2007; 11(2): 93–97. 10. Nielsen SM, Rhodes L, Blanco I, et al. Von Hippel‑Lindau Disease: Genetics and Role of Genetic Coun‑ seling in a Multiple Neoplasia Syndrome. J Clin Oncol. 2016; 34(18): 2172–2181. 11. Lattouf JB, Pautler SE, Reaume MN, et al. Structured assessment and followup for patients with he‑ reditary kidney tumour syndromes. Can Urol Assoc J. 2016; 10(7–8): E214–E22. 12. Maddock IR, Moran A, Maher ER, et al. A genetic register for von Hippel‑Lindau disease. J Med Genet 1996; 33(2): 120–127. 13. Ong KR, Woodward ER, Killick P, et al. Genotype‑phenotype correlations in von Hippel‑Lindau disease. Hum Mutat. 2007; 28(2): 143–149. 14. Deml KF, Schildhaus HU, Compérat E, et al. Clear cell papillary renal cell carcinoma and renal angio‑ myoadenomatous tumor: two variants of a morphologic, immunohistochemical, and genetic distinct entity of renal cell carcinoma. Am J Surg Pathol. 2015; 39(7): 889–901. 15. Maher ER, Neumann HP, Richard S. Von Hippel‑Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011; 19(6): 617–623. 16. Walther MM, Choyke PL, Glenn G, et al. Renal cancer in families with hereditary renal cancer: prospecti‑ ve analysis of a tumor size threshold for renal parenchymal sparing surgery. J Urol. 1999; 161(5): 1475–1479. 17. Duffey BG, Choyke PL, Glenn G, et al. The relationship between renal tumor size and metastases in patients with von Hippel‑Lindau disease. J Urol. 2004; 172(1): 63–65. 18. Guo J, Tretiakova MS, Troxell ML, et al. Tuberous sclerosis‑associated renal cell carcinoma: a clinico‑ pathologic study of 57 separate carcinomas in 18 patients. Am J Surg Pathol. 2014; 38(11): 1457–1467. 19. Vrtel R, Fillipová H, Vodicka R, et al. Tuberous sclerosis. Klin Onkol. 2009; 22(Suppl): S50–53. 20. Northrup H, Krueger DA, Group ITSCC. Tuberous sclerosis complex diagnostic criteria update: re‑ commendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013; 49(4): 243–254. 21. Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol. 2004; 19(9): 643–649. 22. Dixon BP, Hulbert JC, Bissler JJ. Tuberous sclerosis complex renal disease. Nephron Exp Nephrol. 2011; 118(1): e15–20. 23. Tello R, Blickman JG, Buonomo C, Herrin J. Meta analysis of the relationship between tuberous scle‑ rosis complex and renal cell carcinoma. Eur J Radiol. 1998; 27(2): 131–138. 24. Moch H, Ohashi R, Gandhi JS, Amin MB. Morphological clues to the appropriate recognition of he‑ reditary renal neoplasms. Semin Diagn Pathol. 2018; 35(3): 184–192. 25. Palsgrove DN, Li Y, Pratilas CA, et al. Eosinophilic Solid and Cystic (ESC) Renal Cell Carcinomas Harbor TSC Mutations: Molecular Analysis Supports an Expanding Clinicopathologic Spectrum. Am J Surg Pathol. 2018; 42(9): 1166–1181. 26. Trpkov K, Hes O. New and emerging renal entities: a perspective post‑WHO 2016 classification. His‑ topathology 2019; 74(1): 31–59. 27. Trpkov K, Abou‑Ouf H, Hes O, et al. Eosinophilic Solid and Cystic Renal Cell Carcinoma (ESC RCC): Further Morphologic and Molecular Characterization of ESC RCC as a Distinct Entity. Am J Surg Pathol. 2017; 41(10): 1299–308. 28. Carlo MI, Hakimi AA, Stewart GD, et al. Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights. Eur Urol. 2019; 76(6): 754–764. 29. Dabora SL, Franz DN, Ashwal S, et al. Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF- D levels decrease. PLoS One. 2011; 6(9): e23379.

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