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Case Reports in Medicine
Volume 2012, Article ID 107894, 4 pages
http://dx.doi.org/10.1155/2012/107894
Case Report

Familial Aggregation of Urinary Tract and Bone Tumors: Searching for a Syndrome

1Department of Orthopedic Surgery, Medical University of Graz, Auenbruggerplatz 5, 8036 Graz, Austria
2Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, 8010 Graz, Austria
3Institute of Pathology, Medical University of Graz, Auenbruggerplatz 25, 8036 Graz, Austria

Received 9 February 2012; Accepted 20 March 2012

Academic Editor: André Mégarbané

Copyright © 2012 Andreas Frings et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.