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PREVALENCE, MORPHOLOGY AND BIOLOGY OF RENAL CELL CARCINOMA IN VON HIPPEL-LINDAU DISEASE COMPARED TO SPORADIC RENAL CELL CARCINOMA
- Source :
- The Journal of Urology. :1248-1254
- Publication Year :
- 1998
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 1998.
-
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, 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
- Subjects :
- Kidney
Pathology
medicine.medical_specialty
endocrine system diseases
business.industry
Urology
Carcinoma
medicine.disease
urologic and male genital diseases
female genital diseases and pregnancy complications
renal cell
Pheochromocytoma
medicine.anatomical_structure
Germline mutation
Renal cell carcinoma
Hemangioblastoma
medicine
genetic markers
cardiovascular diseases
Von Hippel–Lindau disease
business
neoplasms
Germ-Line Mutation
Kidney disease
Subjects
Details
- ISSN :
- 00225347
- Database :
- OpenAIRE
- Journal :
- The Journal of Urology
- Accession number :
- edsair.doi.dedup.....b312981ec03f6e1a1ac54b6408507255