RESEARCH ON THE VALUE OF METHYLATION OF THE SEPT9 GEN IN SERUM FOR THE DIAGNOSIS OF COLORECTAL CANCER

Thuỳ Linh Dương1, , Anh Hải Vũ1, Văn Hùng Nguyễn2, Hữu Thọ Hồ3, Văn Ba Nguyễn4
1 Khoa Vật lý Xạ trị, Trung tâm Ung bướu, Bệnh viện Quân y 103, Học viện Quân y
2 Trung tâm Ung bướu, Bệnh viện Đại học Y Hà Nội
3 Viện Nghiên cứu Y Dược học Quân sự, Học viện Quân y
4 Phòng Khoa học Quân sự, Học viện Quân y

Main Article Content

Abstract

Objectives: To study the value of methylation of the SEPT9 gene (mSEPT9) in peripheral blood for the diagnosis of colorectal cancer (CRC). Methods: A cross-sectional descriptive study involving 244 participants, including 92 healthy individuals undergoing health checks at Military Hospital 103 and 152 patients with CRC monitored at Military Hospital 103 and K Hospital from January 2021 to December 2024. The detection of mSEPT9 in peripheral blood was determined using the Nested-PCR technique with an extended sequence probe (ExBP). Results: The early detection value of CRC using mSEPT9 differentiates CRC patients from healthy individuals with a sensitivity of 76.31%, specificity of 89,13%, positive predictive value of 92,06%, and negative predictive value of 69,49%. ROC curve analysis recorded an AUC of 0,827 for the diagnostic value of CRC using mSEPT9, with p < 0.0001. Individuals with positive mSEPT9 are at a 26,42 times higher risk of CRC compared to those with negative mSEPT9 (p < 0.0001). In the CRC group, patients with positive mSEPT9 have a 3,719 times higher risk of progressing to late-stage disease compared to those with negative mSEPT9 (p < 0.001). Conclusion: mSEPT9 demonstrates high sensitivity and specificity as a diagnostic tool for CRC and its convenience and non-invasive nature play a role in improving the quality of early screening for CRC. Keywords: Colorectal cancer, SEPT9 gene methylation.

Article Details

References

1. Miller Kimberly D, et al. Cancer treatment and survivorship statistics. CA: A Cancer Journal for Clinicians. 2022; 72(5):409-436.
2. Ajithkumar Priyadarshana, et al. Exploring potential epigenetic biomarkers for colorectal cancer metastasis. Molecular Sciences. 2024; 25(2):874.
3. Beniwal Shreya Singh, et al. Current status and emerging trends in colorectal cancer screening and diagnostics. Biosensors. 2023; 13(10):926.
4. Gao Xianchun, et al. DNA methylation biomarkers for early detection of gastric and colorectal cancers. Cancer Biology and Medicine. 2023; 20(12):955.
5. Sun J, et al. The role of (m)SEPT9 in screening, diagnosis, and recurrence monitoring of colorectal cancer. BMC Cancer. 2019; 19(1):450.
6. Lu Pingxia, et al. Methylated septin 9 as a promising biomarker in the diagnosis and recurrence monitoring of colorectal cancer. Disease Markers. 2022.
7. Min Liang, et al. Using circulating tumor DNA as a novel biomarker to screen and diagnose colorectal cancer: A meta-analysis. Journal of Clinical Medicine. 2023; 12(2):408.
8. Leerhoff Sabine, et al. Methylated Septin9 identified patients with colorectal carcinoma and showed higher sensitivity than conventional biomarkers in detecting tumor. Cancer Treatment and Research Communication. 2023; 36:100748.
9. Sun Qian, et al. Diagnostic performances of methylated septin9 gene, CEA, CA19-9 and platelet-to-lymphocyte ratio in colorectal cancer. BMC Cancer. 2024; 24(1):906
10. Lofton-Day Catherine, et al. DNA methylation biomarkers for blood-based colorectal cancer screening. Clinical Chemistry. 2008; 54(2):414-423.