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Early detection of adrenocortical carcinoma in a child with Li–Fraumeni syndrome
Author(s) -
Lin MingTsan,
Shieh JengJer,
Chang Julia HuiMei,
Chang ShihWen,
Chen TseChing,
Hsu WenHu
Publication year - 2009
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21836
Subject(s) - li–fraumeni syndrome , proband , medicine , adrenocortical carcinoma , germline mutation , germline , asymptomatic , genetic counseling , exon , pheochromocytoma , cancer , oncology , mutation , cancer research , genetics , gene , biology
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.