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.
Li-Fraumeni综合征（LFS）为一种遗传易感肿瘤综合征，肿瘤发病年龄早，个体肿瘤发生率高。先证者为2岁6个月男童，病理诊断为左颌下胚胎型横纹肌肉瘤；其哥哥因横纹肌肉瘤去世，外祖母患乳腺癌。对患儿及部分家庭成员进行TP53基因突变检测，发现患儿存在EXON 8的错义突变：c.844C＞T（p.Arg282Trp）（杂合），患儿母亲、姐姐均检测出该突变。符合LFS诊断标准。TP53基因是比较明确的LFS致病基因。儿童患者LFS疾病谱系中最常见的依次为骨肉瘤、肾上腺皮质癌、中枢神经系统肿瘤及软组织肿瘤，其它可能相关的包括白血病、淋巴瘤等。LFS患者有较大的几率患二次甚至多次肿瘤。因此对于儿童肿瘤患者，尤其是某些具有遗传易感性的肿瘤，有必要进行遗传学评估，如果存在TP53基因突变，治疗上则应当更为积极，并对LFS家系进行系统监测管理。