Article
Early detection of adrenocortical carcinoma in a child with Li-Fraumeni syndrome.
Pediatric blood & cancer - 1 Apr 2009
Lin Ming-Tsan, Shieh Jeng-Jer, Chang Julia Hui-Mei, Chang Shih-Wen, Chen Tse-Ching, Hsu Wen-Hu
Abstract excerpt
We report an 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 subs...
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