Familial aggregation of urinary tract and bone tumors: searching for a syndrome.
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.
Department of Orthopedic Surgery, Medical University of Graz, Auenbruggerplatz 5, 8036 Graz, Austria.
Andreas
A
Frings
Jochen B
JB
Geigl
Bernadette
B
Liegl-Atzwanger
Andreas
A
Leithner