2024 Volume 24 Issue 2 Pages 161-165
An 83-year-old man underwent comprehensive genomic profiling (Guardant360® CDx) during treatment for liver metastasis after surgery for rectal leiomyosarcoma. The results showed four kinds of TP53 pathogenic variants with different allele frequencies (P152L 53.12%, Y220C 0.9%, G266E 0.39%, F270L 0.16%). As the patient had a medical history of six malignant tumors, including gastric cancer at age 56 and colorectal cancer, TP53 P152L, with an allele frequency of 50% or more, was disclosed as a presumed germline pathogenic variant. After genetic counseling, a single-site test detected a pathogenic germline variant, and the patient was diagnosed with Li-Fraumeni syndrome. This case was really difficult to detect Li-Fraumeni syndrome using the clinical diagnostic criteria, and was diagnosed as having it after undergoing comprehensive genomic profiling. Therefore, we recognize the necessity for confirmatory testing even in elderly people.
