| Author/Editor | Neuman, HP; Bender, BU; Berger, DP; Laubenberger, J; Schultze-Seemann, W; Wetterauer, U; Ferstl, FJ; Herbst, EW; Schwarzkopf, G; Glavač, D | |
| Title | Prevalence, morphology and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma | |
| Type | članek | |
| Source | J Urol | |
| Vol. and No. | Letnik 160, št. 4 | |
| Publication year | 1998 | |
| Volume | str. 1248-54 | |
| Language | eng | |
| Abstract | Purpose: 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, romocytoma, pancreatic cysts and renal cell carcinoma. We determine the prevalence of von Hippel-Lindau disease in a series ofunselected 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 nselected renal cell carcinoma patients. Risk factors for occult germline von Hippel-Lindau gene mutations in register B cluded 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. (Abstract truncated at 2000 characters.) | |
| Descriptors | CARCINOMA, RENAL CELL HIPPEL-LINDAU DISEASE KIDNEY NEOPLASMS MUTATION PREVALENCE ADULT MIDDLE AGE AGED AGED, 80 AND OVER |