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|標題:||Early Detection of Adrenocortical Carcinoma in a Child With Li-Fraumeni Syndrome||作者:||Lin, M.T.
|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.||摘要:||
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.
|Appears in Collections:||生物醫學研究所|
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