title: Familial renal carcinoma: clinical evaluation, clinical subtypes and risk of renal carcinoma development.
abstract: OBJECTIVE
  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.
  
  
  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.
authors.affiliation: Urologic Oncology Branch, National Cancer Institute, Bethesda, Maryland 20892-1107, USA. zbarb@ncifcrf.gov
authors.forename: Berton
authors.initials: B
authors.lastname: Zbar
authors.forename: Gladys
authors.initials: G
authors.lastname: Glenn
authors.forename: Maria
authors.initials: M
authors.lastname: Merino
authors.forename: Lindsay
authors.initials: L
authors.lastname: Middelton
authors.forename: James
authors.initials: J
authors.lastname: Peterson
authors.forename: Jorge
authors.initials: J
authors.lastname: Toro
authors.forename: Jonathan
authors.initials: J
authors.lastname: Coleman
authors.forename: Peter
authors.initials: P
authors.lastname: Pinto
authors.forename: Laura S
authors.initials: LS
authors.lastname: Schmidt
authors.forename: Peter
authors.initials: P
authors.lastname: Choyke
authors.forename: W Marston
authors.initials: WM
authors.lastname: Linehan
mesh_terms: D002292:Carcinoma, Renal Cell / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012307:Risk Factors