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

被引：1
作者：
Takeoka, Mami [1 ]
Toyoda, Hidemi [1 ]
Hirayama, Junya [1 ]
Suzuki, Naofumi [1 ]
Hanaki, Ryo [1 ]
Amano, Keishiro [1 ]
Iwamoto, Shotaro [1 ]
Hirayama, Masahiro [1 ]
机构：
[1] Mie Univ, Dept Pediat, Grad Sch Med, 2-174 Edobashi, Tsu, Mie 5148507, Japan
来源：
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2021年 / 43卷 / 04期
关键词：
Li-Fraumeni syndrome; adrenocortical carcinoma; rhabdomyosarcoma; TP53 MUTATION CARRIERS; IMAGING SURVEILLANCE; BREAST-CANCER; P53; GENE; SARCOMAS; TUMOR;
D O I：
10.1097/MPH.0000000000001862
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
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.
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收藏
页码：E567 / E570
页数：4
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