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 < 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.
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 carcinomapatients. 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.
Authors: Ying Yi; Olga Mikhaylova; Aygun Mamedova; Prabhat Bastola; Jacek Biesiada; Enas Alshaikh; Linda Levin; Rachel M Sheridan; Jarek Meller; Maria F Czyzyk-Krzeska Journal: Clin Cancer Res Date: 2010-10-26 Impact factor: 12.531
Authors: C A Jilg; Hartmut P H Neumann; S Gläsker; O Schäfer; C Leiber; P U Ardelt; M Schwardt; W Schultze-Seemann Journal: Fam Cancer Date: 2012-09 Impact factor: 2.375
Authors: Sakari Vanharanta; Mary Buchta; Sarah R McWhinney; Sanna K Virta; Mariola Peçzkowska; Carl D Morrison; Rainer Lehtonen; Andrzej Januszewicz; Heikki Järvinen; Matti Juhola; Jukka-Pekka Mecklin; Eero Pukkala; Riitta Herva; Maija Kiuru; Nina N Nupponen; Lauri A Aaltonen; Hartmut P H Neumann; Charis Eng Journal: Am J Hum Genet Date: 2003-12-18 Impact factor: 11.025
Authors: Olga Mikhaylova; Monika L Ignacak; Teresa J Barankiewicz; Svetlana V Harbaugh; Ying Yi; Patrick H Maxwell; Martin Schneider; Katie Van Geyte; Peter Carmeliet; Monica P Revelo; Michael Wyder; Kenneth D Greis; Jarek Meller; Maria F Czyzyk-Krzeska Journal: Mol Cell Biol Date: 2008-02-19 Impact factor: 4.272
Authors: Aleksandra Tołoczko-Grabarek; Andrzej Sikorski; Marek Brzosko; Jan Lubiński Journal: Hered Cancer Clin Pract Date: 2005-08-15 Impact factor: 2.857
Authors: Won Tae Kim; Won Sik Ham; Hee Jeong Ju; Jin Sun Lee; Jin Sung Lee; Young Deuk Choi Journal: J Korean Med Sci Date: 2009-11-09 Impact factor: 2.153