Back to Search
Start Over
Gestational choriocarcinoma associated with a germline TP53 mutation.
- Source :
-
Familial cancer [Fam Cancer] 2018 Jan; Vol. 17 (1), pp. 113-117. - Publication Year :
- 2018
-
Abstract
- 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.
- Subjects :
- Adult
Choriocarcinoma diagnosis
Choriocarcinoma pathology
Choriocarcinoma surgery
Chorionic Gonadotropin, beta Subunit, Human metabolism
Female
Germ-Line Mutation
Humans
Lung pathology
Lung surgery
Lung Neoplasms diagnosis
Lung Neoplasms pathology
Lung Neoplasms surgery
Male
Pneumonectomy methods
Choriocarcinoma genetics
Chorionic Gonadotropin, beta Subunit, Human blood
Lung Neoplasms genetics
Tumor Suppressor Protein p53 genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1573-7292
- Volume :
- 17
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Familial cancer
- Publication Type :
- Academic Journal
- Accession number :
- 28477316
- Full Text :
- https://doi.org/10.1007/s10689-017-9996-7