中国当代儿科杂志2017，Vol.19Issue(12)：1263-1266,4.DOI:10.7499/j.issn.1008-8830.2017.12.008
诊断横纹肌肉瘤的一个Li-Fraumeni综合征家系报道并文献复习
A rhabdomyosarcoma patient from a Li-Fraumeni syndrome family: a case report and literature review
摘要
Abstract
Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome, with the characteristics of early onset of cancer and high cancer incidence. TP53 is widely accepted as a pathogenic gene of LFS. A 2 years and 6 months old boy is reported in this article, who was diagnosed with embryonal rhabdomyosarcoma (RMS) in the left submandibular region. His brother died of RMS, and his grandmother was diagnosed with breast cancer. TP53 gene mutation detection was performed in this patient and some family members, indicating a missense mutation in exon 8 of the patient: c.844C>T (p.Arg282Trp, heterozygous). TP53 mutation was also found in his mother and sister. The boy met the diagnostic criteria for LFS. Among pediatric patients, the most common LFS diseases include osteosarcoma, adrenocortical cancer, central nervous system tumor, and soft tissue tumor. Additionally, leukemia and lymphoma are also involved. LFS patients have a high risk to suffer secondary or even multiple cancers. Therefore, it is necessary to perform genetic detection for pediatric cancer patients, especially those with hereditary predisposition cancers. TP53 mutation often indicates poor prognosis, so it is important to take active treatment and systematic monitoring for LFS family.关键词
肿瘤/遗传/TP53基因/Li-Fraumeni综合征/儿童Key words
Cancer/Genetics/TP53 gene/Li-Fraumeni syndrome/Child引用本文复制引用
谢瑶,赵卫红,华瑛,孙青,吴鹏辉..诊断横纹肌肉瘤的一个Li-Fraumeni综合征家系报道并文献复习[J].中国当代儿科杂志,2017,19(12):1263-1266,4.基金项目
北京大学第一医院青年基金(2017QN03). （2017QN03）
