2023 Volume 23 Issue 3 Pages 104-108
Li-Fraumeni syndrome (LFS) is an autosomal dominant inherited disorder caused by germline pathological variant in the tumor suppressor gene TP53, and is associated with numerous malignancies from childhood. Here, we report a case of the mother of three children, the first of whom had five malignant tumors, the second of whom had osteosarcoma at 14-year-old, and the third of whom had never developed the disease. The mother died at the age of 40 of choriocarcinoma of the liver 9 months after delivery of her third child. LFS was initially suspected when the first child was 14-year-old, and a germline pathological variant of TP53 was detected by genetic testing. The father was unaffected at the time, but genetic testing revealed that he was a carrier of the same pathological variant, and he later died of prostate cancer at the age of 54. In the course of genetic counseling and genetic testing for the marriage of his second child, we learned of a report that choriocarcinoma occurs in partners of LFS carriers upon pregnancy, and we attempted genetic testing by extracting DNA from a liver tissue sample of the mother who died 20 years ago. Although the amount of the DNA was very small, we detected the same pathological variant of TP53 by the TaqMan Probe method. We speculated that the pathological variant was transferred from the LFS carrier (father) to the partner (mother) by some mechanism when she became pregnant and developed choriocarcinoma of the liver, which is rare and caused her death.
