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Familial Renal Carcinoma: Clinical Evaluation, Clinical Subtypes and Risk of Renal Carcinoma Development

2007; Lippincott Williams & Wilkins; Volume: 177; Issue: 2 Linguagem: Inglês

10.1016/j.juro.2006.09.037

1527-3792

Berton Zbar, G.M. Glenn, Maria J. Merino, Lindsay Middelton, James Peterson, Jorge R. Toro, Jonathan Coleman, Peter A. Pinto, Laura S. Schmidt, Peter L. Choyke, W. Marston Linehan,

Epigenetics and DNA Methylation

No AccessJournal of UrologyAdult urology1 Feb 2007Familial Renal Carcinoma: Clinical Evaluation, Clinical Subtypes and Risk of Renal Carcinoma Development Berton Zbar, Gladys Glenn, Maria Merino, Lindsay Middelton, James Peterson, Jorge Toro, Jonathan Coleman, Peter Pinto, Laura S. Schmidt, Peter Choyke, and W. Marston Linehan Berton ZbarBerton Zbar , Gladys GlennGladys Glenn , Maria MerinoMaria Merino , Lindsay MiddeltonLindsay Middelton , James PetersonJames Peterson , Jorge ToroJorge Toro , Jonathan ColemanJonathan Coleman , Peter PintoPeter Pinto , Laura S. SchmidtLaura S. Schmidt , Peter ChoykePeter Choyke , and W. Marston LinehanW. Marston Linehan View All Author Informationhttps://doi.org/10.1016/j.juro.2006.09.037AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: Familial renal carcinoma is defined as families with 2 or more individuals with renal cell carcinoma without evidence of known hereditary renal carcinoma syndromes. To better characterize this familial cancer we reviewed renal carcinoma families evaluated at the National Cancer Institute between 1990 and 2004 to identify distinctive features of these families. We also determined the risk of renal carcinoma in first-degree relatives of affected family members. Materials and Methods: We evaluated 141 at risk asymptomatic relatives of affected individuals from 50 families with 2 or more members with renal carcinoma. Histology slides of renal tumors from affected family members were reviewed. At risk members from renal carcinoma families were screened for occult renal neoplasms by renal ultrasound and computerized tomography. DNA from select families was tested for germline mutations of known renal carcinoma genes when clinically indicated and constitutional cytogenetic analysis was performed to search for germline chromosome alterations. Results: Familial renal carcinoma families could be subdivided into subtypes based on tumor multiplicity and renal tumor histology. Of 141 at risk members of renal carcinoma families screened for occult renal tumors 2 were found to have occult renal tumors, which were identified as renal oncocytoma and a solid tumor that was not resected, respectively. No histologically confirmed occult renal carcinomas were detected in at risk family members. Several families previously classified as having familial renal carcinoma were found on further evaluation to have hereditary renal cancer syndromes. Conclusions: Familial renal carcinoma is a heterogeneous clinical and pathological entity. Familial renal carcinoma was subdivided into groups based on tumor multiplicity and tumor pathology. The empirical risk of histologically documented renal carcinoma in first-degree relatives who were members of familial renal carcinoma families was less than 1:141. One renal oncocytoma and 1 small solid renal tumor were detected. References 1 : The genetic basis of cancer of the kidney. J Urol2003; 170: 2163. Link, Google Scholar 2 : Familial non-VHL non-papillary clear-cell renal cancer. Lancet1997; 349: 848. Google Scholar 3 : A population-based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas. Int J Cancer2002; 100: 476. Google Scholar 4 : Familial renal cell cancer appears to have a recessive component. J Med Genet2004; 41: e58. Google Scholar 5 : Obesity, hypertension, and the risk of kidney cancer in men. N Engl J Med2000; 343: 1305. 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Google Scholar Urologic Oncology Branch, Laboratory of Immunobiology, Laboratory of Pathology, Molecular Imaging Program, Center for Cancer Research and Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda and Basic Research Program, SAIC-Frederick, Inc., Frederick, Maryland© 2007 by American Urological AssociationFiguresReferencesRelatedDetails Volume 177Issue 2February 2007Page: 461-465 Advertisement Copyright & Permissions© 2007 by American Urological AssociationKeywordskidney neoplasmsgene expressionhereditarykidneyneoplastic syndromesMetricsAuthor Information Berton Zbar More articles by this author Gladys Glenn More articles by this author Maria Merino More articles by this author Lindsay Middelton More articles by this author James Peterson More articles by this author Jorge Toro More articles by this author Jonathan Coleman More articles by this author Peter Pinto More articles by this author Laura S. Schmidt More articles by this author Peter Choyke More articles by this author W. Marston Linehan More articles by this author Expand All Advertisement PDF downloadLoading ...