Lin Ming-Tsan, Shieh Jeng-Jer, Chang Julia Hui-Mei, Chang Shih-Wen, Chen Tse-Ching, Hsu Wen-Hu
Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan.
Pediatr Blood Cancer. 2009 Apr;52(4):541-4. 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.
我们报告了1例李-佛美尼综合征患儿癌症的早期检测情况。先证者为一名3岁男性，患有原始间叶肿瘤。基因分析显示第6外显子220密码子存在种系TP53突变，该突变使TAT变为TGT，导致酪氨酸至半胱氨酸的氨基酸替换（Tyr220Cys）。对有患病风险的妹妹进行了随访，3年后检测到无症状肾上腺皮质癌。该报告强调了遗传咨询的重要性，并提供了1例儿童李-佛美尼综合征携带者癌症早期检测的实例。
