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標題: Early Detection of Adrenocortical Carcinoma in a Child With Li-Fraumeni Syndrome
作者: Lin, M.T.
Shie, J.J.
Chang, J.H.M.
Chang, S.W.
Chen, T.C.
Hsu, W.H.
關鍵字: carrier screen;childhood;genetic counseling;Li-Fraumeni syndrome;p53;mutation;breast-cancer;familial syndrome;p53 mutations;risk;mri;tomography;neoplasms;sarcomas;system;women
Project: Pediatric Blood & Cancer
期刊/報告no:: Pediatric Blood & Cancer, Volume 52, Issue 4, Page(s) 541-544.
We report ail early detection of cancer in a child with Li-Fraumeni syndrome. The proband was a 3-year-old male with a primitive mesenchymal tumor. Genetic analysis showed a germline TP53 mutation in codon 220 exon 6, which changed TAT -> TGT and resulted in a tyrosine-to-cysteine amino acid substitution (Tyr220Cys). The younger Sister at risk was followed, and an asymptomatic adrenal cortical carcinoma was detected 3 years later. The report highlights the importance of genetic counseling and provides an example of early detection of cancers in childhood LFS carriers. Pediatr Blood Cancer 2009;52:-541-544 (C) 2008 Wiley-Liss, Inc.
ISSN: 1545-5009
DOI: 10.1002/pbc.21836
Appears in Collections:生物醫學研究所

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