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Prevalence, morphology and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma.

AbstractPURPOSE:
Renal cell carcinoma occurs as a sporadic tumor but may be part of the autosomal dominant von Hippel-Lindau disease, characterized by retinal and central nervous system hemangioblastoma, pheochromocytoma, pancreatic cysts and renal cell carcinoma. We determine the prevalence of von Hippel-Lindau disease in a series of unselected renal cell carcinoma cases by molecular genetic analysis, and compare sporadic to von Hippel-Lindau renal cell carcinoma with respect to morphology and biology.
MATERIALS AND METHODS:
We established registers comprising 63 subjects with von Hippel-Lindau renal cell carcinoma, belonging to 30 distinct families (register A), and 460 unselected patients operated on for renal cell carcinoma in an 11-year period (register B). Molecular genetic analysis of the von Hippel-Lindau gene was performed for living patients of register A, representing 80% of von Hippel-Lindau families, and register B, 62% living patients, to identify von Hippel-Lindau germline mutations. In addition, register B was evaluated by a questionnaire (95% response) for familial occurrence of von Hippel-Lindau disease.
RESULTS:
The prevalence of von Hippel-Lindau renal cell carcinoma was 1.6% in 189 consenting unselected renal cell carcinoma patients. Risk factors for occult germline von Hippel-Lindau gene mutations in register B included familial renal cell carcinoma in 3 of 3 patients (100%), multifocal or bilateral renal cell carcinoma in 1 of 10 (10%) and age younger than 50 years at diagnosis in 1 of 33 (3%). Compared to sporadic von Hippel-Lindau renal cell carcinoma was characterized by an occurrence 25 years earlier, association with renal cysts, multifocal and bilateral tumors, cystic organization and low grade histology, and a better 10-year survival (p < 0.001 each). In von Hippel-Lindau disease metastases occurred only in tumors larger than 7 cm.
CONCLUSIONS:
von Hippel-Lindau differs from sporadic renal cell carcinoma in morphology and biology. Our data provide arguments for planning surgery for von Hippel-Lindau renal cell carcinoma and should stimulate future investigations.
AuthorsH P Neumann, B U Bender, D P Berger, J Laubenberger, W Schultze-Seemann, U Wetterauer, F J Ferstl, E W Herbst, G Schwarzkopf, F J Hes, C J Lips, J M Lamiell, O Masek, P Riegler, B Mueller, D Glavac, H Brauch
JournalThe Journal of urology (J Urol) Vol. 160 Issue 4 Pg. 1248-54 (Oct 1998) ISSN: 0022-5347 [Print] United States
PMID9751329 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
Topics
  • Adult
  • Aged
  • Aged, 80 and over
  • Carcinoma, Renal Cell (complications, epidemiology, genetics, pathology)
  • Female
  • Humans
  • Kidney Neoplasms (complications, epidemiology, genetics, pathology)
  • Male
  • Middle Aged
  • Mutation
  • Prevalence
  • von Hippel-Lindau Disease (complications, epidemiology, genetics)

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