Novel Gene Methylation Panel Paves Way for Esophageal Cancer Blood Test

Esophageal cancer (EC) is the 7th most commonly diagnosed cancer and ranks as the 6th leading cause of cancer-related deaths worldwide. Currently, the diagnosis of EC relies on methods such as imaging, sponge cytology testing, and endoscopy. While endoscopy is recommended for individuals at high risk of EC, it is not suitable for large-scale screening of the general population due to its invasive, inconvenient, and time-consuming nature. To overcome these challenges, it is essential to improve diagnostic techniques and develop effective screening strategies for at-risk populations. In recent years, several blood-based biomarkers—such as tumor-associated proteins, cell-free DNA (cfDNA), cell-free RNA (cfRNA), miRNA, and other tumor-derived metabolites—have been extensively researched for their potential in clinical applications. Among these, cfDNA, which consists of extracellular DNA fragments released by cells undergoing regulated metabolism or pathological secretion, has shown significant promise in enhancing cancer detection and management. Now, a new study has led to the creation of a gene methylation panel for a blood test aimed at diagnosing EC.

Researchers at Henan Cancer Hospital (Zhengzhou, China) conducted the study using a cohort of 304 participants, including 203 patients with EC and 101 controls. The research focused on DNA methylation levels of SEPTIN9, tissue factor pathway inhibitor 2 (TFPI2), and the fragile histidine triad gene (FHIT) in patients with EC, benign esophageal diseases, and healthy controls. The findings showed significantly higher DNA methylation levels of SEPTIN9, TFPI2, and FHIT in patients with EC compared to those with benign esophageal conditions or healthy individuals. The panel demonstrated considerable potential as a non-invasive tool for distinguishing malignant tumors from both healthy controls and benign esophageal diseases. Specifically, it showed excellent diagnostic efficiency for stage 0, I, and II cancer patients, with sensitivities of 69.0%, 75.5%, and 78.9%, respectively.

The comparison of results between RT-PCR testing and the gold standard of pathological examination revealed a Kappa value of 0.725, indicating a high level of consistency. Furthermore, there was no significant variation in diagnostic efficiency based on age, gender, or the presence of other malignancies. The study’s findings, published in the journal BMC Cancer, suggest that the DNA methylation biomarkers panel offers a promising, non-invasive diagnostic method for EC. The panel’s ability to differentiate between malignant tumors and benign esophageal diseases, along with its high sensitivity and specificity, offers valuable potential for improving the diagnosis of high-risk populations when used in combination with existing detection methods.