Familial aggregation of urinary tract and bone tumors
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Familial aggregation of urinary tract and bone tumors : searching for a syndrome. / Frings, Andreas; Geigl, Jochen B; Liegl-Atzwanger, Bernadette; Leithner, Andreas.
in: CASE REP MED, Jahrgang 2012, 01.01.2012, S. 107894.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Familial aggregation of urinary tract and bone tumors
T2 - searching for a syndrome
AU - Frings, Andreas
AU - Geigl, Jochen B
AU - Liegl-Atzwanger, Bernadette
AU - Leithner, Andreas
PY - 2012/1/1
Y1 - 2012/1/1
N2 - 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.
AB - 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.
U2 - 10.1155/2012/107894
DO - 10.1155/2012/107894
M3 - SCORING: Journal article
C2 - 22666263
VL - 2012
SP - 107894
JO - CASE REP MED
JF - CASE REP MED
SN - 1687-9627
ER -