Methylation of a gestational choriocarcinoma

Gestational choriocarcinoma arises from the cells of conception and is usually characterized as a fast growing, invasive and aggressive malignancy. The overall incidence is approximately 1 case per 50,000 pregnancies and aside from increasing maternal age does not appear to have any other risk factors. In contrast to most malignancies, gestational choriocarcinoma is frequently treated on a clinical diagnosis without a biopsy and therefore tumor samples of sufficient quantity to permit detailed genetic analysis are exceptionally rare. As a result, no previous whole genome sequencing or methylation studies have been reported for this rare diagnosis. With the aim of investigating the potential contribution of epigenetic changes to the pathogenesis of this rare malignancy, we have performed a methylation analysis from routine processed FFPE material in a case of intra-placental choriocarcinoma. Bisulphite converted DNA from a gestational choriocarcinoma and its placenta samples were hybridized to the Illumina Infinium HumanMethylationEPIC BeadChip.