Early detection of adrenocortical carcinoma in a child with Li-Fraumeni syndrome

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 substitut...

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Veröffentlicht in:	Pediatric blood & cancer 2009-04, Vol.52 (4), p.541-544
Hauptverfasser:	Lin, Ming-Tsan, Shieh, Jeng-Jer, Chang, Julia Hui-Mei, Chang, Shih-Wen, Chen, Tse-Ching, Hsu, Wen-Hu
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenal Cortex Neoplasms - diagnosis Adrenal Cortex Neoplasms - etiology Adrenocortical Carcinoma - diagnosis Adrenocortical Carcinoma - etiology Adrenocortical Carcinoma - genetics carrier screen Child, Preschool childhood DNA Mutational Analysis Early Detection of Cancer Female Genetic Counseling Genetic Predisposition to Disease Germ-Line Mutation Humans Li-Fraumeni syndrome Li-Fraumeni Syndrome - complications Li-Fraumeni Syndrome - genetics Male p53 mutation Pedigree Point Mutation Tumor Suppressor Protein p53 - genetics
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