Genetic and histological analysis intraplacental choriocarcinoma: a case report.

IF 1.2 4区医学 Q3 PATHOLOGY Medical Molecular Morphology Pub Date : 2024-06-01 Epub Date: 2024-02-29 DOI:10.1007/s00795-024-00382-3

Natsuko Takano, Masashi Takamura, Yosuke Mizuno, Yumi Mizuno, Shunsuke Tamaru, Kohei Nakamura, Hiroaki Soma, Takeshi Kajihara

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Abstract

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.

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胎盘内绒毛膜癌的遗传学和组织学分析：一份病例报告。

我们报告了本院的一例胎盘内绒毛膜癌（IC）并发胎儿-产妇出血的病例，这是一种发生在绒毛膜滋养细胞中的罕见恶性肿瘤。为了研究 IC 癌变的遗传和表观遗传学变化，我们采用了癌基因面板分析和全甲基化分析。通过短串联重复序列分析，我们证实本例 IC 肿瘤来源于同时存在的正常绒毛滋养层细胞。145个癌症相关基因未发现突变。同时，我们还发现了 MDM2 基因的扩增。此外，我们还在本例 IC 中观察到肿瘤与周围正常胎盘之间存在递质甲基化的 CpG 位点。这些观察结果表明，IC 可能是甲基化畸变而非 DNA 突变的结果。要明确甲基化异常与绒毛膜癌发生之间的关系，还需要进一步的研究。

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来源期刊

Medical Molecular Morphology 医学-病理学

CiteScore

2.90

自引率

5.60%

发文量

审稿时长

>12 weeks

期刊介绍： Medical Molecular Morphology is an international forum for researchers in both basic and clinical medicine to present and discuss new research on the structural mechanisms and the processes of health and disease at the molecular level. The structures of molecules, organelles, cells, tissues, and organs determine their normal function. Disease is thus best understood in terms of structural changes in these different levels of biological organization, especially in molecules and molecular interactions as well as the cellular localization of chemical components. Medical Molecular Morphology welcomes articles on basic or clinical research in the fields of cell biology, molecular biology, and medical, veterinary, and dental sciences using techniques for structural research such as electron microscopy, confocal laser scanning microscopy, enzyme histochemistry, immunohistochemistry, radioautography, X-ray microanalysis, and in situ hybridization. Manuscripts submitted for publication must contain a statement to the effect that all human studies have been reviewed by the appropriate ethics committee and have therefore been performed in accordance with the ethical standards laid down in an appropriate version of the 1964 Declaration of Helsinki. It should also be stated clearly in the text that all persons gave their informed consent prior to their inclusion in the study. Details that might disclose the identity of the subjects under study should be omitted.