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- Title
Familial Aggregation of Urinary Tract and Bone Tumors: Searching for a Syndrome.
- Authors
Frings, Andreas; Geigl, Jochen B.; Liegl-Atzwanger, Bernadette; Leithner, Andreas
- Abstract
Positive family anamnesis is an important risk factor for cancer, and therefore further investigations need to be done if familial aggregation of cancer is observed. Due to a rare combination of urinary tract and bone tumors occurring in the family presented herein we hypothesized a hereditary predisposition and thus, Li-Fraumeni syndrome was considered to be the most likely differential diagnosis. To confirm Li-Fraumeni syndrome, we set out to investigate this case by analyzing the tumor suppressor gene p53. However, taking into account all the diagnostic results obtained, Li-Fraumeni syndrome could not be confirmed, but there is still uncertainty regarding a definitive diagnosis.
- Subjects
URINARY organ cancer; BIOLOGICAL aggregation; BONE tumors; DISEASE susceptibility; UNCERTAINTY (Information theory); LI-Fraumeni syndrome
- Publication
Case Reports in Medicine, 2012, p1
- ISSN
1687-9627
- Publication type
Article
- DOI
10.1155/2012/107894