Hereditary cancer syndromes with increased risk of renal cancer
https://doi.org/10.17650/1726-9776-2023-19-3-133-145
Abstract
Renal cancer (RC) is one of the three most common diseases in oncologic urology. Its accurate diagnosis and prognosis remain difficult and important problems. Some cases of RC are associated with hereditary cancer syndromes and are caused by germline mutations. This review describes monogenic forms of hereditary RC (von Hippel–Lindau syndrome, Birt–Hogg– Dubé syndrome, hereditary leiomyomatosis and renal cell cancer, hereditary papillary renal carcinoma, BAP1 tumor predisposition syndrome) and diseases with several candidate genes (SDH-mutated tumors, tuberous sclerosis complex). Additionally, the review discusses the increased risk of RC in patients with frequent hereditary cancer syndromes predisposing to the development of a wide range of tumor types: Lynch and Li-Fraumeni syndromes. RC in combination with other carcinomas can develop in patients carrying pathogenic mutations in the candidate genes of different hereditary cancer syndromes – multi-locus inherited neoplasia allele syndrome (MINAS) – which is especially important due to the growing role of high-throughput sequencing in practical oncologic genetics. Additionally, guidelines on modern laboratory genetic diagnostics and active surveillance are presented for each syndrome.
Keywords
renal cancer,
hereditary cancer syndrome,
germline mutation,
genetic diagnostics,
active surveillance
Supporting agencies: The research was performed within the 2023 state assignment of Ministry of Science and Higher Education of the Russian Federation for the N.P. Bochkov Research Center for Medical Genetics.
About the Authors
D. S. Mikhaylenko
Research Centre for Medical Genetics; I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)
Russian Federation
Competing Interests:
Russian Federation
Dmitry S. Mikhaylenko.
1 Moskvorech’e St., Moscow 115522; 8 Trubetskaya St., Moscow 119991
Competing Interests:
None
N. A. Gorban
Research Centre for Medical Genetics; United Hospital with Outpatient Department, Administrative Department of the President of the Russian Federation
Russian Federation
Competing Interests:
Russian Federation
1 Moskvorech’e St., Moscow 115522; 15 Marshala Timoshenko St., Moscow 121359
Competing Interests:
None
D. V. Zaletaev
Research Centre for Medical Genetics
Russian Federation
Competing Interests:
Russian Federation
1 Moskvorech’e St., Moscow 115522
Competing Interests:
None
References
1. Malignant tumors in Russia in 2021 (morbidity and mortality). Eds.: AD. Kaprin, V.V. Starinskiy, A.O. Shakhzadova. Moscow: MNIOI im. P.A. Gertsena - filial FGBU “NMITS radiologii” Minzdrava Rossii, 2022. 252 p. (In Russ.).
2. Mikhaylenko D.S., Nemtsova M.V., Alekseev B.Ya. Kidney tumors in hereditary cancer syndromes. In: Kidney cancer: clinical and experimental studies. Eds.: N.E. Kushlinsky, V.B. Matveev, N.A. Ogne-rubov, M.I. Davydov. Chapter 7. Moscow: Izdatel'stvo RAMN, 2019. Pp. 188-211. (In Russ.).
3. Clinical Guidelines. Kidney parenchyma cancer, 2021. Available at: https://cr.minzdrav.gov.ru/recomend/10. (In Russ.).
4. NCCN Clinical Practice Guidelines in Oncology. Kidney cancer, v. 4.2023. Available at: https://www.nccn.org/professionals/physi-cian_gls/pdf/kidney.pdf.
5. Danishevich A., Bilyalov A., Baychorov M. et al. Von Hippel-Lindau syndrome: the family clinical case and brief review of the literature. BioNanoScience 2022;12:184-90. DOI: 10.1007/s12668-021-00933-3
6. Carlo M.I., Hakimi A.A., Stewart G.D. et al. Familial kidney cancer: implications of new syndromes and molecular insights. Eur Urol 2019;76(6):754-64. DOI: 10.1016/j.eururo.2019.06.015
7. Mikhaylenko D.S., Shchagina O.A., Tyulpakov A.N. et al. Molecular genetic diagnostics of the Hippel-Lindau syndrome: guideline. Ed.: D.S. Mikhaylenko. Moscow: Triumph, 2021. 44 p. (In Russ.).
8. Ricketts C.J., Vocke C.D., Lang M. et al. A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau. J Med Genet 2022;59(1):18-22. DOI: 10.1136/jmedgenet-2020-107308
9. Mizutani K., Yokoi S., Sawada S. et al. Derivative chromosome 3 loss from t(3;6)(q12;q14) followed by differential VHL mutations underlie multifocal ccRCC. Cancer Genomics Proteomics 2022;19(6):740-6. DOI: 10.21873/cgp.20356
10. Oldfield L.E., Grzybowski J., Grenier S. et al. VHL mosaicism: the added value of multi-tissue analysis. NPJ Genom Med 2022;7(1):21. DOI: 10.1038/s41525-022-00291-3
11. Whitman A., Damodharan S., Bhatia A. et al. Hemangioblastoma and mosaic von Hippel-Lindau disease: rare presentation and review of the literature. Childs Nerv Syst 2023;39(5):1361-3. DOI: 10.1007/s00381-023-05859-7
12. Coppin L., Plouvier P., Crepin M. et al. Optimization of next-generation sequencing technologies for von Hippel Lindau (VHL) mosaic mutation detection and development of confirmation methods. J Mol Diagn 2019;21(3):462-70. DOI: 10.1016/j.jmoldx.2019.01.005
13. Moch H., Amin M.B., Berney D.M. et al. The 2022 World Health Organization classification of tumours of the urinary system and male genital organs - part A: renal, penile, and testicular tumours. Eur Urol 2022;82(5):458-68. DOI: 10.1016/j.eururo.2022.06.016
14. Andreou A., Yngvadottir B., Bassaganyas L. et al. Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease. Hum Mol Genet 2022;31(16):2728-37. DOI: 10.1093/hmg/ddac066
15. Mathiesen J.S., Effraimidis G., Rossing M. et al. Multiple endocrine neoplasia type 2: a review. Semin Cancer Biol 2022;79:163-79. DOI: 10.1016/j.semcancer.2021.03.035
16. Ben Aim L., Maher E.R., Cascon A. et al. International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma. J Med Genet 2022;59(8):785-92. DOI: 10.1136/jmedgenet-2020-107652
17. Karuppasamy G., Farooqi A.A., Sajid S., Elouzi E. Hereditary pheochromocytoma with a mutation in the succinate dehydrogenase subunit A gene. Cureus 2022;14(4):e24584. DOI: 10.7759/cureus.24584
18. Lewis M.A. Hereditary syndromes in neuroendocrine tumors. Curr Treat Options Oncol 2020;21(6):50. DOI: 10.1007/s11864-020-00749-5
19. VHLA Suggested Active Surveillance Guidelines. v.10.09.2020. Available at: https://www.vhl.org/wp-content/uploads/forms/vhla-active-surveillance-guidelines.pdf.
20. Singh S., Chaurasia A., Gopal N. et al. Treatment strategies for hereditary kidney cancer: current recommendations and updates. Discov Med 2022;34(173):205-20.
21. Happle R. Hornstein-Knickenberg syndrome vs. Birt-Hogg-Dube syndrome: a critical review of an unjustified designation. J Eur Acad Dermatol Venereol 2020;34(4):885-7. DOI: 10.1111/jdv.16190
22. Bruinsma F.J., Dowty J.G., Win A.K. et al. Update of penetrance estimates in Birt-Hogg-Dube syndrome. J Med Genet 2023;60(4):317-26. DOI: 10.1136/jmg-2022-109104
23. Mikhaylenko D.S., Matveev V.B., Filippova M.G. et al. Comprehensive molecular genetic diagnostics of Birt-Hogg-Dube syndrome in a Russian patient with renal cancer and lung cysts: a case report. Case Rep Oncol 2021;14(2):963-71. DOI: 10.1159/000516763
24. Matsumoto K., Lim D., Pharoah P.D. et al. A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours. Eur J Hum Genet 2021;29(11):1595-600. DOI: 10.1038/s41431-021-00921-x
25. Schmidt L.S., Linehan W.M. FLCN: the causative gene for Birt-Hogg-Dube syndrome. Gene 2018;640:28-42. DOI: 10.1016/j.gene.2017.09.044
26. Ball M.W., Ricketts C.J. Complexities in estimating the true risk of hereditary leiomyomatosis and renal cell carcinoma and the development of kidney cancer. Cancer 2020;126(16):3617-9. DOI: 10.1002/cncr.32915
27. Scharnitz T., Nakamura M., Koeppe E. et al. The spectrum of clinical and genetic findings in hereditary leiomyomatosis and renal cell cancer (HLRCC) with relevance to patient outcomes: a retrospective study from a large academic tertiary referral center. Am J Cancer Res 2023;13(1):236-44.
28. Lu E., Hatchell K.E., Nielsen S.M. et al. Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing. Cancer 2022;128(4):675-84. DOI: 10.1002/cncr.33997
29. Sanchez-Heras A.B., Castillejo A., Garcia-Diaz J.D. et al. Hereditary leiomyomatosis and renal cell cancer syndrome in Spain: clinical and genetic characterization. Cancers (Basel) 2020;12(11):3277. DOI: 10.3390/cancers12113277
30. Webster B.R., Gopal N., Ball M.W. Tumorigenesis mechanisms found in hereditary renal cell carcinoma: a review. Genes (Basel) 2022;13(11):2122. DOI: 10.3390/genes13112122
31. Yong C., Stewart G.D., Frezza C. Oncometabolites in renal cancer. Nat Rev Nephrol 2020;16(3):156-72. DOI: 10.1038/s41581-019-0210-z
32. Shuch B., Li S., Risch H. et al. Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer. Cancer 2020;126(16):3657-66. DOI: 10.1002/cncr.32914
33. Vocke C.D., Ricketts C.J., Merino M.J. et al. Comprehensive genomic and phenotypic characterization of germline FH deletion in hereditary leiomyomatosis and renal cell carcinoma. Genes Chromosomes Cancer 2017;56(6):484-92. DOI: 10.1002/gcc.22452
34. Alzahrani A.S., Alswailem M., Alghamdi B., Al-Hindi H. Fumarate hydratase is a novel gene for familial non-medullary thyroid cancer. J Clin Endocrinol Metab 2022;107(9):2539-44. DOI: 10.1210/clinem/dgac386
35. Chayed Z., Kristensen L.K., Ousager L.B. et al. Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review. Orphanet J Rare Dis 2021;16(1):34. DOI: 10.1186/s13023-020-01653-9
36. Forde C., Lim D.H.K., Alwan Y. et al. Hereditary leiomyomatosis and renal Cell cancer: clinical, molecular, and screening features in a cohort of 185 affected individuals. Eur Urol Oncol 2020;3(6):764-72. DOI: 10.1016/j.euo.2019.11.002
37. Catarina T., Quental M.S., Brandao J.R., Silva-Ramos M. Hereditary leiomyomatosis and renal cell cancer-recognizing patterns may save lives. J Kidney Cancer VHL 2022;9(2):27-31. DOI: 10.15586/jkcvhl.v9i2.222
38. Sebai M., Tulasne D., Caputo S.M. et al. Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I. Hum Mutat 2022;43(3):316-27. DOI: 10.1002/humu.24313
39. Pilarski R., Carlo M.I., Cebulla C., Abdel-Rahman M. BAP1 tumor predisposition syndrome. 2016 Oct 13 [updated 2022 Mar 24]. In: Adam M.P., Mirzaa G.M., Pagon R.A. et al. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle, 1993-2023.
40. Pandithan D., Klebe S., McKavanagh G. et al. BAP1 tumour predisposition syndrome due to whole BAP1 gene deletion. Case Rep Genet 2022;2022:5503505. DOI: 10.1155/2022/5503505
41. Alshoabi S.A., Hamid A.M., Alhazmi F.H. et al. Diagnostic features of tuberous sclerosis complex: case report and literature review. Quant Imaging Med Surg 2022;12(1):846-61. DOI: 10.21037/qims-21-412
42. Gomes I., Jesus Ribeiro J., Palavra F. Monitoring and managing patients with tuberous sclerosis complex: current state of knowledge. J Multidiscip Healthc 2022;15:1469-80. DOI: 10.2147/JMDH.S266990
43. Kumar P., Zadjali F., Yao Y., Bissler J.J. Renal cystic disease in tuberous sclerosis complex. Exp Biol Med (Maywood) 2021;246(19):2111-7. DOI: 10.1177/15353702211038378
44. Henske E.P., Cornejo K.M., Wu C.L. Renal cell carcinoma in tuberous sclerosis complex. Genes (Basel) 2021;12(10):1585. DOI: 10.3390/genes12101585
45. Anoshkin K.I., Karandasheva K.O., Tanas A.S. et al. Medical technology for comprehensive DNA analysis in tuberous sclerosis. Meditsinskaya genetika = Medical Genetics 2018;17(8):32-7. (In Russ.). DOI: 10.25557/2073-7998.2018.08.32-37
46. Yoo A., Tang C., Zucker M. et al. Genomic and metabolic hallmarks of SDH- and FH-deficient renal cell carcinomas. Eur Urol Focus 2022;8(5):1278-88. DOI: 10.1016/j.euf.2021.12.002
47. Wilczek Y., Sachdeva A., Turner H., Veeratterapillay R. SDH-deficient renal cell carcinoma: a clinicopathological analysis highlighting the role of genetic counselling. Ann R Coll Surg Engl 2021;103(1):e20-2. DOI: 10.1308/rcsann.2020.0196
48. Lee Y.C., Lee Y.L., Li C.Y. BRCA genes and related cancers: a metaanalysis from epidemiological cohort studies. Medicina (Kaunas) 2021;57(9):905. DOI: 10.3390/medicina57090905
49. Rocca V., Blandino G., D'Antona L. et al. Li-Fraumeni syndrome: mutation of TP53 is a biomarker of hereditary predisposition to tumor: new insights and advances in the treatment. Cancers (Basel) 2022;14(15):3664. DOI: 10.3390/cancers14153664
50. Schneider K., Zelley K., Nichols K.E., Garber J. Li-Fraumeni Syndrome. 1999 Jan 19 [updated 2019 Nov 21]. In: Adam M.P., Mirzaa G.M., Pagon R.A. et al. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle, 1993-2023.
51. Bhattacharya P., McHugh T.W. Lynch Syndrome. 2023 Feb 4. In: StatPearls. Treasure Island (FL): StatPearls Publishing, 2023.
52. Roupret M., Seisen T., Birtle A.J. et al. European Association of Urology guidelines on upper urinary tract urothelial carcinoma: 2023 Update. Eur Urol 2023;84(1):49-64. DOI: 10.1016/j.eururo.2023.03.013
53. Nassour A.J., Jain A., Hui N. et al. Relative risk of bladder and kidney cancer in Lynch syndrome: systematic review and meta-analysis. Cancers (Basel) 2023;15(2):506. DOI: 10.3390/cancers15020506
54. Tsukanov A.S., Kashnikov V.N., Pikunov D.Yu., Chernyshov S.V. Lynch syndrome - diagnosis, monitoring and treatment: Guideline. Moscow: Borges, 2021. 40 p. (In Russ.).
55. Khatkov I.E., Zhukova L.G., Danishevich A.M. et al. Guidelines for the counseling of patients with verified (confirmed) hereditary cancer syndromes and their relatives with an identified predisposition to the development of oncological diseases. Moscow, 2022. 27 p. (In Russ.).
56. Van de Beek I., Glykofridis I.E., Wagner A. et al. Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors. Mol Genet Genomic Med 2023;11(2):e2098. DOI: 10.1002/mgg3.2098
57. McGuigan A., Whitworth J., Andreou A. et al. Multilocus inherited neoplasia allele syndrome (MINAS): an update. Eur J Hum Genet 2022;30(3):265-70. DOI: 10.1038/s41431-021-01013-6
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Mikhaylenko D.S., Gorban N.A., Zaletaev D.V. Hereditary cancer syndromes with increased risk of renal cancer. Cancer Urology. 2023;19(3):133-145. (In Russ.) https://doi.org/10.17650/1726-9776-2023-19-3-133-145
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