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 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.
Lin
Ming-Tsan
MT
Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan. mtsy@ms18.hinet.net
Shieh
Jeng-Jer
JJ
Chang
Julia Hui-Mei
JH
Chang
Shih-Wen
SW
Chen
Tse-Ching
TC
Hsu
Wen-Hu
WH
D000306:Adrenal Cortex Neoplasms / Q000175:diagnosis* / Q000209:etiology; D018268:Adrenocortical Carcinoma / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D055088:Early Detection of Cancer; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
D016159:Tumor Suppressor Protein p53