PREVALENCE, MORPHOLOGY AND BIOLOGY OF RENAL CELL CARCINOMA IN VON HIPPEL-LINDAU DISEASE COMPARED TO SPORADIC RENAL CELL CARCINOMA |
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| Authors: | HARTMUT P.H. NEUMANN BERNHARD U. BENDER DIETMAR P. BERGER JORG LAUBENBERGER WOLFGANG SCHULTZE-SEEMANN ULRICH WETTERAUER FRANZ JOSEF FERSTL EBERHARD W. HERBST GEORG SCHWARZKOPF FREDERIK J. HES CORNELIS LIPS J. M. JAMES M. LAMIELL OTAKAR MASEK PETER RIEGLER BARBARA MUELLER DAMJAN GLAVAC HILTRUD BRAUCH |
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| Affiliation: | From the Departments of Medicine, Radiology, Urology and Pathology, Albert-Ludwigs-Universitat, Freiburg and Laboratory of Oncology, Department of Gynecology, University of Hamburg, Hamburg, Germany, Department of Medicine, University Hospital Utrecht, The Netherlands, United States Army Medical Department Center and School, Fort Sam Houston, Texas, Department of Radiology, Community Hospital, Zlin, Czech Republic, Department of Nephrology, Community Hospital, Bolzano, Italy, and Institute of Pathology, University of Ljubljana, Ljubljana, Slovenia |
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| Abstract: | PurposeRenal 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 MethodsWe 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.ResultsThe 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.ConclusionsVon 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. |
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