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.

我院报道一例胎盘内绒毛膜癌（IC）合并母胎出血的病例，这是一种发生在绒毛膜绒毛滋养层的罕见恶性肿瘤。为了研究 IC 致癌的遗传和表观遗传变化，我们对最近的 IC 病例进行了癌症基因组分析和全甲基化分析。通过Short Tandem Repeats分析，我们证实本IC的肿瘤来源于同时存在的正常绒毛膜绒毛滋养层细胞。 145个癌症相关基因未发现突变。同时，观察到MDM2基因的扩增。此外，我们在本例 IC 病例中观察到肿瘤和周围正常胎盘之间存在差异甲基化的 CpG 位点。这些观察结果表明 IC 可能是甲基化异常而不是 DNA 突变的结果。需要进一步的研究来阐明异常甲基化与绒毛膜癌发生之间的关联。