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 predi...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2012/107894 |
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| _version_ | 1832559095083696128 |
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| author | Andreas Frings Jochen B. Geigl Bernadette Liegl-Atzwanger Andreas Leithner |
| author_facet | Andreas Frings Jochen B. Geigl Bernadette Liegl-Atzwanger Andreas Leithner |
| author_sort | Andreas Frings |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-b861244dde2044afab596fa90022527d |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-b861244dde2044afab596fa90022527d2025-02-03T01:30:55ZengWileyCase Reports in Medicine1687-96271687-96352012-01-01201210.1155/2012/107894107894Familial Aggregation of Urinary Tract and Bone Tumors: Searching for a SyndromeAndreas Frings0Jochen B. Geigl1Bernadette Liegl-Atzwanger2Andreas Leithner3Department of Orthopedic Surgery, Medical University of Graz, Auenbruggerplatz 5, 8036 Graz, AustriaInstitute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, 8010 Graz, AustriaInstitute of Pathology, Medical University of Graz, Auenbruggerplatz 25, 8036 Graz, AustriaDepartment of Orthopedic Surgery, Medical University of Graz, Auenbruggerplatz 5, 8036 Graz, AustriaPositive 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.http://dx.doi.org/10.1155/2012/107894 |
| spellingShingle | Andreas Frings Jochen B. Geigl Bernadette Liegl-Atzwanger Andreas Leithner Familial Aggregation of Urinary Tract and Bone Tumors: Searching for a Syndrome Case Reports in Medicine |
| title | Familial Aggregation of Urinary Tract and Bone Tumors: Searching for a Syndrome |
| title_full | Familial Aggregation of Urinary Tract and Bone Tumors: Searching for a Syndrome |
| title_fullStr | Familial Aggregation of Urinary Tract and Bone Tumors: Searching for a Syndrome |
| title_full_unstemmed | Familial Aggregation of Urinary Tract and Bone Tumors: Searching for a Syndrome |
| title_short | Familial Aggregation of Urinary Tract and Bone Tumors: Searching for a Syndrome |
| title_sort | familial aggregation of urinary tract and bone tumors searching for a syndrome |
| url | http://dx.doi.org/10.1155/2012/107894 |
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