Gestational choriocarcinoma associated with a germline TP53 mutation

We report here the first case of a female germlineTP53 mutation carrier who developed, as a first tumour, a lung choriocarcinoma, 6  months after a normal delivery. Molecular analyses established the gestational origin of the choriocarcinoma and showed, within the tumour, the presence of the germline mutantTP53 allele and loss of the wild-type allele. Resistance to methotrexate chemotherapy led to perform a surgical resection of the tumour. In agreement with the permissive role ofTP53 mutations to oncogenic events, this report strongly suggests thatTP53 mutations may promote malignant transformation of proliferating trophoblastic cells. Therefore, femaleTP53 mutation carriers may have an increased risk of developing gestational choriocarcinoma and might benefit from β-hCG level monitoring after pregnancy.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research