Journal of pediatric hematology/oncology · 2021
Report of 2 Pediatric Cases With Li-Fraumeni Syndrome Related Malignancy in a Family.
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Takeoka Mami, Toyoda Hidemi, Hirayama Junya, Suzuki Naofumi, Hanaki Ryo, Amano Keishiro, Iwamoto Shotaro, Hirayama Masahiro
Аннотация
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.