Journal List > Korean J Urol > v.49(10) > 1005195

TOOLS
Kim, Ham, Park, Kim, Lee, Lee, Ju, and Choi: Clinical Characteristics of Renal Cell Carcinoma in Korean Patients with von Hippel-Lindau Disease
Original Article
Korean Journal of Urology

Korean Journal of Urology 2008; 49(10): 863-867.

Published online: 31 October 2008

DOI: https://doi.org/10.4111/kju.2008.49.10.863

Clinical Characteristics of Renal Cell Carcinoma in Korean Patients with von Hippel-Lindau Disease

Won Tae Kim, Won Sik Ham, Sung Jin Park, Sang Woon Kim, Jin sung Lee1, Jin Sun Lee, Hee Jeong Ju, Young Deuk Choi

Department of Urology, Urological Science Institute, Yonsei University College of Medicine, Seoul, Korea.

1Department of Clinical Genetics, Yonsei University College of Medicine, Seoul, Korea.

youngd74@yuhs.ac

Received 27 June 2008       Accepted 29 July 2007

Copyright © 2008 The Korean Urological Association

Abstract

Purpose

To analyze the clinical characteristics of renal cell carcinoma (RCC) in Korean patients with von Hippel-Lindau (VHL) disease.

Materials and Methods

The clinical characteristics of 21 patients who were diagnosed with VHL disease were analyzed. In patients with RCC related to VHL disease, the clinical characteristics of the tumor, type of pathology and survival were investigated.

Results

There were 1,396 patients diagnosed with RCC during the same period. A total of 21 patients were diagnosed with VHL disease. Among the 21 patients with VHL disease, 6 (28.6%) patients had retinal angioma, 18 (85.7%) had cerebellar hemangioblastoma, 15 had pancreatic lesions, including 13 with a pancreatic cyst and two with a pancreatic mass. The mean age of the patients diagnosed with VHL disease was 39.1±13.5 years and for those that were diagnosed with VHL disease with RCC it was 42.5±11.5 years. Thirteen patients (61.9%) had renal lesions and nine (42.9%) had RCC. Five had bilateral RCC and four had unilateral RCC. The presenting symptoms were gross hematuria and flank pain in two patients. The treatment of the RCC included radical nephrectomy in two, radical nephrectomy and target therapy in one, partial nephrectomy in two, IL-2 immunotherapy in one, and target therapy in one. Two were observed without treatment because of severe complications of a cerebellar hemangioblastoma. The pathology of the seven patients that had surgery or a biopsy was that of the conventional type RCC. The survival of the patients with VHL with and without RCC was not significantly different.

Conclusions

The incidence of RCC in patients with VHL disease was 42.9%, and the incidence of VHL disease in RCC patients was 0.64% in Korea. However, VHL disease in Korea is rare; further extended multi-institutional studies are needed to determine the characteristics of VHL disease in Korea.

Keywords: Von Hippel-Lindau disease, Renal cell carcinoma, Autosomal disease

Figures and Tables

Fig. 1
Overall disease-specific survival rates for the patients with von Hippel-Lindau (VHL) disease, with and without renal cell carcinoma (RCC).
kju-49-863-g001
Table 1
Patient profile of 21 patients with von Hippel-Lindau (VHL) disease
kju-49-863-i001

RCC: renal cell carcinoma, M: male, F: female

Table 2
Mutations associated with von Hippel-Lindau (VHL) gene
kju-49-863-i002

T: thymine, C: cytosine, A: adenine, G: guanine, His: histidine, Gln: glutamine, Arg: arginine, Trp: tryptophan, Asn: asparagine, Ser: serine

Table 3
Description of renal cell carcinoma in nine patients with von Hippel-Lindau (VHL) disease
kju-49-863-i003

B: bilateral, R: right, L: left, C: conventional renal cell carcinoma, RCC: renal cell carcinoma, GH: gross hematuria, FP: flank pain, Nephrec: nephrectomy, Partial: partial nephrectomy, Observ.: observation, IL-2: IL-2 based immunotherapy

References

1. Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM, et al. von Hippel-Lindau disease. Lancet. 2003. 361:2059–2067.
2. Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, et al. Identification of the von Hippel-Lindau disease tumour suppressor gene. Science. 1993. 260:1317–1320.
3. Maher ER, Iselius L, Yates JR, Littler M, Benjamin C, Harris R, et al. von Hippel-Lindau disease: a genetic study. J Med Genet. 1991. 28:443–447.
4. Kim DS, Kim JJ, Yoon DK, Koh SK, Won NH. A case of von Hippel-Lindau disease diagnosed by intitial symptoms of urologic manifestation. Korean J Urol. 1987. 28:126–132.
5. Kang IS, Lee YI, Seo IY, Jeong HJ, Rim JS. Renal cell carcinoma associated with von Hippel-Lindau disease treated by wedge resection. Korean J Urol. 2004. 45:495–497.
6. Kim JH, Cheon SH, Oh CS, Kim YM, Park RJ. Cystic renal cell carcinoma associated with von Hippel-Lindau disease treated by nephron sparing surgery. Korean J Urol. 2005. 46:93–95.
7. Klein B, Weirich G, Brauch H. DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations. Hum Genet. 2001. 108:376–384.
8. Chen F, Kishida T, Yao M, Hustad T, Glavac D, Dean M, et al. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat. 1995. 5:66–75.
9. Richards FM, Webster AR, McMahon R, Woodward ER, Rose S, Maher ER. Molecular genetic analysis of von Hippel-Lindau disease. J Intern Med. 1998. 243:527–533.
10. Rocha JC, Silva RL, Mendonca BB, Marui S, Simpson AJ, Camargo AA. High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil. J Med Genet. 2003. 40:e31.
11. Chen F, Kishida T, Yao M, Hustad T, Glavac D, Dean M, et al. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat. 1995. 5:66–75.
12. Neumann HP, Wiestler OD. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet. 1991. 337:1052–1054.
13. Maddock IR, Moran A, Maher ER, Teare MD, Norman A, Payne SJ, et al. A genetic register for von Hippel-Lindau disease. J Med Genet. 1996. 33:120–127.
14. Friedrich CA. Von Hippel-Lindau syndrome. A pleomorphic condition. Cancer. 1999. 86(11 Suppl):2478–2482.
15. Richard S, Campello C, Taillandier L, Parker F, Resche F. Haemangioblastoma of the central nervous system in von Hippel-Lindau disease. French VHL study group. J Intern Med. 1998. 243:547–553.
16. Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med. 1990. 77:1151–1163.
17. Hes FJ, Slootweg PJ, van Vroonhoven TJ, Hene RJ, Feldberg MA, Zewald RA, et al. Management of renal cell carcinoma in von Hippel-Lindau disease. Eur J Clin Invest. 1999. 29:68–75.
18. Ishikawa I, Kovacs G. High incidence of papillary renal cell tumours in patients on chronic haemodialysis. Histopathology. 1993. 22:135–139.
19. Steinbach F, Novick AC, Zincke H, Miller DP, Williams RD, Lund G, et al. Treatment of renal cell carcinoma in von Hippel-Lindau disease: a multicenter study. J Urol. 1995. 153:1812–1816.
20. Walther MM, Choyke PL, Weiss G, Manolatos C, Long J, Reiter R, et al. Parenchymal sparing surgery in patients with hereditary renal cell carcinoma. J Urol. 1995. 153:913–916.
TOOLS
Similar articles