Genetic characteristics of the non-clear cell renal cancer
https://doi.org/10.17650/1726-9776-2016-12-3-14-21
Abstract
Renal cancer (RC) is one of the most frequent diseases in oncological urology; the most common form of RC is the clear cell carcinoma. However, percentage of less-studied non-clear cell RC (nccRC) reaches up to 25 % of cases suggesting further studying, improvement of diagnosis and treatment of these tumors. The key events of carcinogenesis are genetic alterations including chromosomal aberrations and point mutations in proto-oncogenes and tumor suppressor genes. This review describes cytogenetic aberrations in the context of nccRC diversity according to the current ISUP classification. Translocation variants of nccRC (MiT-RC) were characterized separately as particular cases of the chromosome rearrangements involving MiT gene family (TFE3, TFEB, MITF). In addition, the main nccRC hereditary forms caused by germinal mutations in the genes FLCN, FH, and MET, as well as recent studies of sporadic tumors with using the next generation sequencing techniques were reviewed. These experiments were designed to search for somatic mutations throughout the tumor genome or exom and revealed the different mutational profiles of I/II papillary RC subtypes, chromophobe carcinoma versus oncocytoma. The review may be informative for oncologists, urologists, geneticists and specialists in related sciences.
About the Authors
D. S. MikhaylenkoRussian Federation
51/4 3rd Parkovaya St., Moscow, 105425
1 Moskvorech’e St., Moscow, 115478
B. Y. Alekseev
Russian Federation
51/4 3rd Parkovaya St., Moscow, 105425
G. D. Efremov
Russian Federation
51/4 3rd Parkovaya St., Moscow, 105425
A. D. Kaprin
Russian Federation
51/4 3rd Parkovaya St., Moscow, 105425
References
1. Злокачественные новообразования в России в 2014 году (заболеваемость и смертность). Под ред. А.Д. Каприна, В.В. Старинского, Г.В, Петровой / М.: Изд-во МНИОИ им. П.А. Герцена, 2016, 250 с. [Malignant tumors in Russia in 2014: morbidity and mortality. Ed. By Kaprin A.D., Starinsky V.V., Petrova G.V., M., 2016 (in Russ.)]
2. Linehan W.M. Genetic basis of kidney cancer: role of genomics for the development of disease-based therapeutics. Genome Res 2012; 22: 2089-2100.
3. Muglia V.F., Prando A. Renal cell carcinoma: histological classification and correlation with imaging findings. Radiol Bras 2015; 48: 166-174.
4. Михайленко Д.С., Залетаев Д.В. Молекулярно-генетическая диагностика в онкоурологии. Saarbrucken: LAP Lambert Academic Publishing; 2013; 64 c. [Mikhaylenko D.S., Zaletayev D.V. Molecular genetic diagnostics in urologic oncology. Saarbrucken: LAP Lambert Academic Publishing; 2013 (in Russ.)].
5. Матвеев В.Б., Волкова М.И. Последовательная таргетная терапия при диссеминированном раке почки. Онкоурология 2013; 1: 28-33. [Matveev V.B., Volkova M.I. Sequential targeted therapy for disseminated renal cancer. Oncourology 2013; 1: 28-33 (in Russ.)]
6. Kuroda N., Tanaka A. Recent classification of renal epithelial tumors. Med Mol Morphol 2014; 47: 68-75.
7. Bellmunt J., Dutcher J. Targeted therapies and the treatment of non-clear cell renal cell carcinoma. Ann Oncol 2013; 24: 1730-1740.
8. Srigley J.R., Delahunt B., Eble J.N. et al. The International society of urological pathology (ISUP) Vancouver classification of renal neoplasia. Am J Surg Pathol 2013; 37: 1469-1489.
9. Rao Q., Xia Q.-Y., Cheng L., Zhou X.-J. Molecular genetics and immunohistochemistry characterization of uncommon and recently described renal cell carcinomas. Chin J Cancer Res 2016; 28: 29-49.
10. Nagashima Y., Kuroda N., Masahiro Y. Transition of organizational category on renal cancer Jpn J Clin Oncol 2013; 43: 233-242.
11. Argani P. MiT family translocation renal cell carcinoma. Semin Diagn Pathol 2015; 32: 103-113.
12. Magers M.J., Udager A.M., Mehra R. MiT family translocation-associated renal cell carcinoma: a contemporary update with emphasis on morphologic, immunophenotypic, and molecular mimics. Arch Pathol Lab Med 2015; 139: 1224-1233.
13. Durinck S., Stawiski E.W., Pavia-Jimenez A. et al. Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. Nat Genet 2015; 47: 13-21.
14. Linehan W.M., Spellman P.T., Ricketts C.J. et al. Comprehensive molecular characterization of papillary renal-cell carcinoma. N Engl J Med 2016; 374: 135-145.
15. Schmidt L.S., Linehan W.M. Hereditary leiomyomatosis and renal cell carcinoma. Int J Nephrol Renovasc Dis 2014; 7: 253–260.
16. Menko F.H., Maher E., Schmidt L.S. et al Hereditary leiomyomatosis and renal cell cancer (HLRCC). Renal cancer risk, surveillance and treatment. Fam Cancer 2014; 13: 637-644.
17. Raymond V.M., Herron C.M., Giordano T.J., Gruber S.B. Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. Fam Cancer 2012; 11: 115-121.
18. Wadt K., Gerdes A.M., Hansen T.V. et al. Novel germline c-Met mutation in a family with hereditary papillary renal carcinoma. Fam Cancer 2012; 11: 535-537.
19. Haas N.B., Nathanson K.L. Hereditary renal cancer syndromes. Adv Chronic Kidney Dis 2014; 21: 81-90.
20. Schmidt L.S., Linehan W.M. Clinical features, genetics and potential therapeutic approaches for Birt-Hogg-Dube syndrome. Expert Opin Orphan Drugs 2015; 3: 15-29.
21. Benhammou J.N., Vocke C.D., Santani A. et al. Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dube syndrome. Genes Chromosomes Cancer 2011; 50: 466-477.
22. Krill-Burger J.M., Lyonce M.A., Kelly L.A. et al. Renal cell neoplasm contain shared tumor type-specific copy number variations. Am J Pathol 2012; 180: 2427-2439.
23. Yusenko M.V. Molecular pathology of renal oncocytoma: a review. Int J Urol 2010; 17: 602-614.
24. Аполихин О.И., Михайленко Д.С., Михальченко А.Е. и др. Молекулярно-генетические нарушения как критерии в дифференциальной диагностике редких опухолей почки // Эксперментальная и клиническая урология. – 2013; 3: 21-27. [Apolikhin O.I., Mikhaylenko D.S., Mikhalchenko A.E. et al. Molecular-genetic alterations as criteria in differential diagnostics of rare renal tumors. Exp Clin Urol 2013; 3: 21-27 (in Russ.)]
25. Davis C.F., Ricketts C.J., Wang M. et al. The genomic landscape of chromophobe renal cell carcinoma. Cancer Cell 2014; 26: 319-330.
26. Rathmell K.W., Chen F., Creighton C.J. Genomics of chromophobe renal cell carcinoma: implications from a rare tumor for pan-cancer studies. Oncoscience 2015; 2: 81-90.
27. Joshi S., Tolkunov D., Aviv H. et al. The genomic landscape of renal oncocytoma identifies a metabolic barrier to tumorigenesis. Cell Rep 2015; 13: 1895-1908.
28. Albiges L., Guegan J., Le Formal A. et al. MET is a potential target across all papillary renal cell carcinomas: result from a large molecular study of pRCC with CGH array and matching gene expression array. Clin Cancer Res 2014; 20: 3411-3421.
29. Miyata Y., Asai A., Mitsunari K. et al. Met in urological cancers. Cancer 2014; 6: 2387-2403.
30. Courthod G., Tucci M., Di Maio M. et al. Papillary renal cell carcinoma: a review of the current therapeutic landscape. Crit Rev Oncol Hematol 2015; 96: 100-112.
31. Twardowski P.W., Mack P.C., Lara P.N. Papillary renal cell carcinoma: current progress and future directions. Clin Genitourinary Cancer 2014; 12: 74-79.
32. Kang X.L., Zou H., Pang L.J. et al. Chromosomal imbalances revealed in primary renal cell carcinomas by comparative genomic hybridization. Int J Clin Exp Pathol 2015; 8: 3636-3647.
33. Chen F., Zhang Y., Senbabaoglu Y. et al. Multilevel genomics-based taxonomy of renal cell carcinoma. Cell Rep 2016; 14: 2476-2489.
34. Liu K., Ren Y., Pang L. et al. Papillary renal cell carcinoma: a clinicopathological and whole-genome exon sequencing study. Int J Clin Exp Pathol 2015; 8: 8311-8335.
35. Kovac M., Navas C., Horswell S. et al. Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution. Nat Commun 2015; 6: 6336.
36. Lawrie C.H., Larrea E., Larrinaga G. et al. Targeted next-generation sequencing and non-coding RNA expression analysis of clear cell papillary renal cell carcinoma suggests distinct pathological mechanisms from other renal tumor subtypes. J Pathol 2014; 232: 32-42.
37. Srinivasan R., Ricketts C.J., Sourbier C., Linehan W.M. New strategies in renal cell carcinoma: targeting the genetic and metabolic basis of disease. Clin Cancer Res 2015; 21: 10-17.
38. Тимофеев И.В. Современные возможности лечения несветлоклеточного почечно-клеточного рака. Онкоурология 2015; 4: 24-33. [Timofeev I.V. Current treatment approaches to non-clear cell renal carcinoma. Oncourology 2015; 4: 24-33 (in Russ.)]
39. Алексеев Б.Я., Нюшко К.М., Калпинский А.С. Применение сунитиниба в реальной клинической практике у больных метастатическим раком почки. Онкоурология 2016; 1: 14-20. [Alekseev B.Y., Nyushko K.M., Kalpinsky A.S. Using of sunitinib in patients with metastatic renal cancer in real clinical practice. Oncourology 2016; 1: 14-20 (in Russ.)]
Review
For citations:
Mikhaylenko D.S., Alekseev B.Y., Efremov G.D., Kaprin A.D. Genetic characteristics of the non-clear cell renal cancer. Cancer Urology. 2016;12(3):14-21. https://doi.org/10.17650/1726-9776-2016-12-3-14-21