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Case Reports
. 2021 May 1;43(4):e567-e570.
doi: 10.1097/MPH.0000000000001862.

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

Mami Takeoka  1 , Hidemi Toyoda, Junya Hirayama, Naofumi Suzuki, Ryo Hanaki, Keishiro Amano, Shotaro Iwamoto, Masahiro Hirayama
Affiliations
Case Reports

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

Mami Takeoka et al. J Pediatr Hematol Oncol. .

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.

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Conflict of interest statement

The authors declare no conflict of interest.

References

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