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.

引用

页码：E567 / E570

页数：4

共 21 条

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