一个家族中两例与李-弗劳梅尼综合征相关恶性肿瘤的儿科病例报告。

Report of 2 Pediatric Cases With Li-Fraumeni Syndrome Related Malignancy in a Family.

作者信息

Takeoka Mami, Toyoda Hidemi, Hirayama Junya, Suzuki Naofumi, Hanaki Ryo, Amano Keishiro, Iwamoto Shotaro, Hirayama Masahiro

机构信息

Department of Pediatrics, Mie University Graduate School of Medicine, Mie, Japan.

出版信息

J Pediatr Hematol Oncol. 2021 May 1;43(4):e567-e570. doi: 10.1097/MPH.0000000000001862.

DOI:10.1097/MPH.0000000000001862

PMID:32555031

Abstract

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.

摘要

李-佛美尼综合征（LFS）是一种罕见的遗传性疾病，其特征是癌症风险高且发病早。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很重要。我们报告了一个家族中2例与LFS相关的儿童恶性肿瘤病例。8岁的哥哥被诊断为肾上腺皮质癌，发现其TP53基因存在杂合错义种系突变c.736A>G：p.Met246Val。癌症筛查使得他2岁的弟弟在可治愈阶段被诊断出横纹肌肉瘤。全面监测导致早期肿瘤检测并提高了生存率。