Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Frings, A; Geigl, JB; Liegl-Atzwanger, B; Leithner, A.
Familial aggregation of urinary tract and bone tumors: searching for a syndrome.
Case Rep Med. 2012; 2012(2):107894-107894
Doi: 10.1155/2012/107894
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- Führende Autor*innen der Med Uni Graz
- Frings Andreas
- Co-Autor*innen der Med Uni Graz
- Geigl Jochen Bernd
- Leithner Andreas
- Liegl-Atzwanger Bernadette
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- 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.