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

• Published in: Pediatric blood & cancer Vol. 52; no. 4; pp. 541 - 544
• Main Authors: Lin, Ming-Tsan, Shieh, Jeng-Jer, Chang, Julia Hui-Mei, Chang, Shih-Wen, Chen, Tse-Ching, Hsu, Wen-Hu
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.04.2009
• Subjects: 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
• ISSN: 1545-5009; 1545-5017
• DOI: 10.1002/pbc.21836

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 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. © 2008 Wiley‐Liss, Inc.