Report of 2 Pediatric Cases With Li-Fraumeni Syndrome Related Malignancy in a Family
Report of 2 Pediatric Cases With Li-Fraumeni Syndrome Related Malignancy in a Family
复制标题
家族中李法美尼综合征相关恶性肿瘤2例儿科报告
DOI：
10.1097/mph.0000000000001862
复制
发表时间：
2020
期刊：
影响因子：
--
通讯作者：
Hirayama Masahiro
中科院分区：
文献类型：
--
作者：
Takeoka Mami;Toyoda Hidemi;Hirayama Junya;Suzuki Naofumi;Hanaki Ryo;Amano Keishiro;Iwamoto Shotaro;Hirayama Masahiro
Li-Fraumeni综合征（LFS）是一种罕见的遗传性疾病，其特征是高和早发性癌症风险。癌症监测计划对于降低LFS患者的癌症相关发病率和死亡率非常重要。我们报告2例儿科病例与LFS相关的恶性肿瘤在一个家庭。八岁的哥哥被诊断为肾上腺皮质癌，并被发现有一个杂合错义生殖系突变c。736 A> G：p.TP53基因中的Met 246 Val。癌症筛查导致他2岁的弟弟被诊断为横纹肌肉瘤，处于可治愈阶段。全面的监测导致早期肿瘤检测和提高生存率。
Li-Fraumeni syndrome (LFS) is a rare inherited disease characterized by a high and early-onset cancer risk. A cancer surveillance program is important to reduce cancer-related morbidity and mortality in individuals with LFS. We report 2 pediatric cases with LFS-related malignancy in a family. Eight-year-old elder brother was diagnosed with adrenocortical carcinoma and was found to have a heterozygous missense germline mutation c. 736A> G: p. Met246Val in the TP53 gene. Cancer screening led to the diagnosis of rhabdomyosarcoma at a curable stage in his 2-year-old younger brother. Comprehensive surveillance resulted in early tumor detection and improved survival.