Early Detection of Adrenocortical Carcinoma in a Child With Li-Fraumeni Syndrome

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