Detection of circulating tumor DNA methylation by ddPCR in endometrial cancer: a new tool in therapeutic management?

Endometrial cancer is the most common invasive malignant tumor of the female reproductive system. In France, this cancer is the 4th most common cause of cancer in women, and the second most common gynecological cancer after breast cancer. It generally affects women after menopause, and is associated with several risk factors such as obesity, diabetes, tamoxifen treatment, and more rarely a genetic predisposition. Although the worldwide incidence of this cancer is constantly increasing, there is no blood biomarker for the diagnosis and monitoring of this cancer.

The work carried out by Guillaume Beinse et al (CARPEM team 1), published in the journal Clinical Chemistry, has made it possible to develop and validate a highly sensitive and specific ddPCR test for the detection of circulating tumor DNA (tcDNA) in plasma in patients with endometrial carcinoma. This work, which combines bioinformatics approaches and the ddPCR technique, identifies 2 specific tcDNA hypermethylation sites common to all endometrial tumors analyzed, independent of mutational heterogeneity.

This finding opens new perspectives for therapeutic management and detection of minimal residual disease in patients with this cancer.

Read the article