The incidence of molecularly defined renal cell carcinomas in a retrospective cohort from a single urology center
Authors:
Petr Stránský jr. 1; Jiří Kolář 1; Tomáš Pitra 1; Jan Pernický 2; Taťána Bryndaková 3; Ondřej Fiala 4,5; Milan Hora 1; Petr Stránský 1; Michal Michal 3,6; Ondrej Ondič 3,6; Kristýna Pivovarčíková 3,6
Authors‘ workplace:
Urologická klinika LF UK a FN Plzeň
1; Klinika zobrazovacích metod LF UK a FN Plzeň
2; Šiklův ústav patologie, LF UK a FN Plzeň
3; Onkologická a radioterapeutická klinika LF UK a FN Plzeň
4; Biomedicínské centrum, LF UK Plzeň
5; Bioptická laboratoř, s. r. o., Plzeň
6
Published in:
Ces Urol 2026; 30(2): 67-76
Category:
Original article
doi:
https://doi.org/10.48095/cccu2026008
Overview
Aim: To evaluate the frequency of molecularly defined renal cell carcinomas (RCC) in a retrospective cohort of patients from a single urology center. Patients and methods: All patients diagnosed with a renal neoplasm at the Department of Urology, University Hospital Pilsen, between January 2018 and September 2025 were retrospectively identified. Particular attention was paid to cases that underwent diagnostic genetic testing. Ultimately, patients with a confirmed “molecularly defined RCC” were included. Clinical data, tumor type, stage, and disease course were evaluated. Results: Of a total of 1,589 renal tumors, molecular-genetic testing was performed in 73 cases. A “molecularly defined RCC” was identified in 17 patients (23.29% of those molecularly tested; 1.2% of all tumors). The most frequent entity was TFE3-
-rearranged RCC (N = 9), followed by fumarate hydratase-deficient RCC (N = 4), ELOC-mutated RCC (N = 2), TFEB-amplified RCC (N = 1), and succinate dehydrogenase-deficient RCC (N = 1). A proportion of patients presented with advanced-stage disease. In addition, one case of RCC with fibro(leio)myomatous stroma, an emerging entity according to the current WHO classification, was identified. Conclusion: Molecularly defined RCCs accounted for 1.2% of all renal tumors and represented a heterogeneous group dominated by TFE3-altered RCCs, with a frequent occurrence of advanced stages. Molecular-genetic testing confirmed this tumor type in 23.29% of targeted cases. Our data confirm that systematically indicated genetic testing is crucial for accurate classification, has a direct impact on prognosis, and is expected to be important for the selection of appropriate systemic therapy in the future. The results of this study highlight the necessity of accessible and systematically indicated molecular testing of suspected renal tumors as an integral part of modern diagnostic practice.
Keywords:
ELOC-mutated renal cell carcinoma – fumarate hydratase-deficient renal cell carcinoma – molecularly defined renal cell carcinoma – TFEB-altered renal cell carcinoma – TFE3-rearranged renal cell carcinoma
Sources
1. Amin MB, Gill AJ, Hartmann A et al. Tumours of the kidney. In: WHO Classification of Tumours Editorial Board (eds). Urinary and male genital tumours. ed. Lyon: IARC 2022 : 32–86.
2. Bex A, Ghanem YA, Albiges L et al. European Association of Urology Guidelines on renal cell carcinoma: the 2025 update. Eur Urol 2025; 87(6): 683–696. doi: 10.1016/j.eururo.2025.02.020.
3. Han W, Peng K, Shen Q et al. Clinical characteristics and survival outcomes of tfe3-rearranged renal cell carcinoma: a retrospective study compared with clear cell renal cell carcinoma using propensity score matching. World J Urol 2025; 43(1): 654. doi: 10.1007/s00345-025-05927-4.
4. Liu J, Wei J, Zhang Y et al. Analysis of clinicopathologic features and imaging findings of tfe3-rearranged renal cell carcinoma. Clin Genitourin Cancer 2025; 23(6): 102446. doi: 10.1016/j.clgc.2025.102446.
5. Tretiakova MS. Chameleon tfe3-translocation RCC and how gene partners can change morphology: accurate diagnosis using contemporary modalities. Adv Anat Pathol 2022; 29(3): 131–140. doi: 10.1097/PAP.0000000000000332.
6. Argani P, Reuter VE, Zhang L et al. TFEB-amplified renal cell carcinomas: an aggressive molecular subset demonstrating variable melanocytic marker expression and morphologic heterogeneity. Am J Surg Pathol 2016; 40(11): 1484–1495. doi: 10.1097/PAS.0000000000000720.
7. Argani P. Translocation carcinomas of the kidney. Genes chromosomes cancer 2022; 61(5): 219–227. doi: 10.1002/gcc.23007.
8. Hakimi AA, Tickoo SK, Jacobsen A et al. TCEB1-mutated renal cell carcinoma: a distinct genomic and morphological subtype. Mod Pathol 2015; 28(6): 845–853. doi: 10.1038/modpathol.2015.6.
9. Hes O, Michalová K, Pivovarčíková K. Novinky ve WHO klasifikaci renálních nádorů 2022. Čes-slov Patol 2022; 58(4): 187–191.
10. Trpkov K, Williamson SR, Gill AJ et al. Novel, emerging and provisional renal entities: the genitourinary pathology society (GUPS) update on renal neoplasia. Mod Pathol 2021; 34(6): 1167–1184. doi: 10.1038/s41379-021-00737-6.
11. Chen YB, Brannon AR, Toubaji A et al. Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. Am J Surg Pathol 2014; 38(5): 627–637. doi: 10.1097/PAS.0000000000000163.
12. Trpkov K, Hes O, Agaimy A et al. Fumarate hydratase-deficient renal cell carcinoma is strongly correlated with fumarate hydratase mutation and hereditary leiomyomatosis and renal cell carcinoma syndrome. Am J Surg Pathol 2016; 40(7): 865–875. doi: 10.1097/PAS.0000000000000617.
13. Pivovarcikova K, Martinek P, Grossmann P et al. Fumarate hydratase deficient renal cell carcinoma: chromosomal numerical aberration analysis of 12 cases. Ann Diagn Pathol 2019; 39 : 63–68. doi: 10.1016/j.anndiagpath.2019.02.008.
14. Gill AJ, Hes O, Papathomas T et al. Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients. Am J Surg Pathol 2014; 38(12): 1588–1602. doi: 10.1097/PAS.0000000000000292.
15. Gill AJ. Succinate dehydrogenase (SDH)-deficient neoplasia. Histopathology 2018; 72(1): 106–116. doi: 10.1111/his.13277.
16. Rogala J, Zhou M. Hereditary succinate dehydrogenase-deficient renal cell carcinoma. Semin Diagn Pathol 2024; 41(1): 32–41. doi: 10.1053/j.semdp.2023.11.001.
17. Shah RB, Stohr BA, Tu ZJ et al. “Renal cell carcinoma with leiomyomatous stroma” harbor somatic mutations of TSC1, TSC2, MTOR, and/or ELOC (TCEB1): clinicopathologic and molecular characterization of 18 sporadic tumors supports a distinct entity. Am J Surg Pathol 2020; 44(5): 571–581. doi: 10.1097/PAS.0000000000001422.
18. European Association of Urology. EAU Guidelines on renal cell carcinoma. Arnhem: EAU Guidelines Office 2026. [online]. Available from: https://uroweb.org/guidelines/renal-c
Labels
Paediatric urologist Nephrology UrologyArticle was published in
Czech Urology
2026 Issue 2
Most read in this issue
- Our department’s experience with the reconstruction of urethral panstricture using the Kulkarni method
- Inverted urothelial papilloma – a benign lesion with a potential link to urothelial carcinoma
- Editorial
- Rare occurrence of rete testis adenocarcinoma