SEPTIN9 (Septin 9)

We developed and validated two ML-based models integrating Septin9 methylation with routine serum biomarkers for early detection and differentiation of CRC. These models show potential as non-invasive clinical decision-support tools to facilitate individualized risk assessment and support clinical management in patients undergoing evaluation for colorectal neoplasia.

Applied to plasma samples from patients with various tumors (including colorectal, lung, breast, cervical, liver, and gastric cancers), the technology significantly improved the detection rates up to 100% of tumor-specific methylation biomarkers, such as SDC2, SHOX2, RASSF1A, ZNF671, Septin9, and BMP3. Therefore, this study provides an efficient, universal and user-friendly enrichment and accurate detection of mDNA, laying a methodological foundation for early cancer screening and prognosis assessment.

Bisulfite conversion has higher DNA methylation levels for certain CRC biomarkers in tumor tissues, suggesting over-estimation of methylation that could affect biomarker specificity.

We also discuss the repurposing of the oral adsorbent AST-120 and emerging bacteriophage therapies as strategies to disrupt this oncogenic axis. This review offers a comprehensive framework for stratified management of CKD-associated CRC.

Clinicogenomic data reveal that SEPT9 amplification associates with lower genomic alteration in aggressive breast tumors and higher patient mortality. We propose that septins are a mechanoprotective element of the cytoskeleton, and SEPT9 amplification enhances tumor cell survival by preventing nuclear damage.

The electric fields enhance the electron transfer and amplify the electrochemiluminescence intensity, thereby achieving ultra-sensitive detection of the methylated Septin9 gene with a detection limit as low as 8.2 aM. Clinical sample validation using clinical serum samples from healthy controls (n = 100) and colon cancer patients (n = 100) has shown that the biosensor achieves comparable performance to the gold standard method in terms of both sensitivity and specificity, demonstrating equivalent detection efficacy to pyrosequencing.

This study demonstrates that tumor-specific DNA methylation changes, particularly when evaluated using multi-gene panels can enhance prognostic stratification in GC. These findings support the potential use of methylation-based biomarkers for personalized management of GC.

Key tumor markers with diagnostic, prognostic, and predictive value, including CEA, CA19-9, mSEPT9, ctDNA, TPS, TAG-72, CTCs, and circulating microRNAs, as well as p53 and PTEN proteins, are reviewed in the context of their clinical utility in early detection, disease monitoring, and treatment response assessment. The analysis also highlights the epidemiological situation in Poland and underscores the growing importance of integrating molecular biomarkers with traditional diagnostic methods, which may ultimately support the development of more precise and individualized clinical management strategies in the future.

Multivariate regression identified mSEPT9, CEA, CA19-9, FOBT, RDW-CV, and PLR as independent CRC-related factors. Notably, their combined model achieved an area under the curve (AUC) of 0.939, with a sensitivity of 0.920 and specificity of 0.839, offering a valuable non-invasive strategy to enhance CRC diagnosis.

Multivariate analysis further identified tumor size (OR = 1.974, 95% CI: 1.321-2.950, P = 0.005) and TNM stage (OR = 2.117, 95% CI: 1.452-3.087, P = 0.002) as independent predictors of multi-gene methylation positivity. Multi-gene methylation detection showed high diagnostic value for CRC and may serve as a valuable adjunct tool in CRC screening strategies.

This method effectively distinguishing colorectal cancer cells from human colonic epithelial cells and colorectal cancer patients from healthy individuals, showing excellent performance in real sample analysis. The proposed method provides a dependable tool for site-specific methylation detection with promising applications in biological research and clinical diagnosis.