Gestational choriocarcinoma associated with a germline TP53 mutation

• Published in: Familial cancer 2018, Vol.17 (1), p.113-117
• Main Authors: Brehin, Anne-Claire, Patrier-Sallebert, Sophie, Bougeard, Gaëlle, Side-Pfennig, Gwendoline, Llamas Gutierrez, Francisco, Lamy, Aude, Colasse, Elodie, Kandel-Aznar, Christine, Delnatte, Capucine, Vuillemin, Eric, Sadot-Lebouvier, Sophie, Odent, Sylvie, Sabourin, Jean-Christophe, Golfier, François, Frebourg, Thierry
• Format: Article
• Language: English
• Subjects: Adult; Alleles; Biomedical and Life Sciences; Biomedicine; Cancer Research; Chemotherapy; Choriocarcinoma; Choriocarcinoma - diagnosis; Choriocarcinoma - genetics; Choriocarcinoma - pathology; Choriocarcinoma - surgery; Chorionic Gonadotropin, beta Subunit, Human - blood; Chorionic Gonadotropin, beta Subunit, Human - metabolism; Epidemiology; Female; Genetic transformation; Genetics; Germ-Line Mutation; Human Genetics; Humans; Life Sciences; Lung - pathology; Lung - surgery; Lung Neoplasms - diagnosis; Lung Neoplasms - genetics; Lung Neoplasms - pathology; Lung Neoplasms - surgery; Male; Methotrexate; Molecular modelling; Mutation; p53 Protein; Pneumonectomy - methods; Pregnancy; Short Communication; Tumor Suppressor Protein p53 - genetics; Tumors
• ISSN: 1389-9600; 1573-7292
• DOI: 10.1007/s10689-017-9996-7

Choriocarcinoma is a highly malignant neoplasm resulting from the malignant transformation of proliferating trophoblastic cells and the molecular mechanisms leading to this transformation remain to be characterized. We report here the first case of a female germline TP53 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 mutant TP53 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 of TP53 mutations to oncogenic events, this report strongly suggests that TP53 mutations may promote malignant transformation of proliferating trophoblastic cells. Therefore, female TP53 mutation carriers may have an increased risk of developing gestational choriocarcinoma and might benefit from β-hCG level monitoring after pregnancy.