Genetic and histological analysis intraplacental choriocarcinoma: a case report

We report on single case of intraplacental choriocarcinoma (IC) coexisting with feto-maternal hemorrhage from our hospital, a rare malignant tumor that occurs in the chorionic villous trophoblast. To investigate genetic and epigenetic changes to the carcinogenesis of IC, we employed cancer gene pane...

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Bibliographic Details
Published in:Medical molecular morphology 2024-06, Vol.57 (2), p.147-154
Main Authors: Takano, Natsuko, Takamura, Masashi, Mizuno, Yosuke, Mizuno, Yumi, Tamaru, Shunsuke, Nakamura, Kohei, Soma, Hiroaki, Kajihara, Takeshi
Format: Article
Language:English
Subjects:
Adult
Anatomy
Carcinogenesis
Case Report
Choriocarcinoma
Choriocarcinoma - genetics
Choriocarcinoma - pathology
CpG islands
CpG Islands - genetics
DNA Methylation
Epigenetics
Female
Genetic analysis
Hemorrhage
Humans
MDM2 protein
Medicine
Medicine & Public Health
Microsatellite Repeats - genetics
Molecular Medicine
Mutation
Pathology
Placenta - pathology
Pregnancy
Short tandem repeats
Trophoblasts - metabolism
Trophoblasts - pathology
Tumors
Uterine Neoplasms - genetics
Uterine Neoplasms - pathology
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Summary:We report on single case of intraplacental choriocarcinoma (IC) coexisting with feto-maternal hemorrhage from our hospital, a rare malignant tumor that occurs in the chorionic villous trophoblast. To investigate genetic and epigenetic changes to the carcinogenesis of IC, we employed cancer gene panel analysis and whole methylation analysis from a recent case of IC. By Short Tandem Repeats analysis, we confirmed that the tumor of present IC was derived from concurrent normal chorionic villous trophoblast cells. No mutation was found in 145 cancer-related genes. Meanwhile, amplification in MDM2 gene was observed. Furthermore, we observed deferentially methylated CpG sites between tumor and surrounding normal placenta in present IC case. These observations suggest that IC might be arisen as a result of aberrations of methylation rather than of DNA mutations. Further studies are needed to clarify association between aberrant methylation and choriocarcinogenesis.
ISSN:1860-1480
1860-1499
1860-1499
DOI:10.1007/s00795-024-00382-3