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Colorectal cancer; Biomarkers; Prognosis; Liquid biopsy, Genetic markers, Protein markers

Introduction

Colorectal cancer (CRC) represents a significant global health burden, accounting for a substantial number of cancer-related deaths annually. While screening methods like colonoscopy and fecal occult blood testing (FOBT) have been effective in reducing CRC incidence and mortality, challenges remain in terms of accessibility, patient compliance, and cost-effectiveness. Biomarkers have emerged as promising tools to complement existing screening methods, offering the potential for non-invasive, early detection and prognostic assessment [1].

Current screening landscape and challenges

Effective screening plays a pivotal role in reducing CRC incidence and mortality rates by enabling early detection and intervention. Colonoscopy, considered the gold standard for CRC screening, allows for the detection and removal of precancerous polyps, thereby preventing the progression to invasive cancer. However, its invasiveness, cost, and the need for bowel preparation often deter individuals from undergoing regular screening. Fecal-based tests, such as fecal occult blood testing (FOBT) and fecal immunochemical test (FIT), offer less invasive alternatives but may miss early-stage cancers or precancerous lesions due to their limited sensitivity and specificity [2].

Role of biomarkers in enhancing early detection

Biomarkers have emerged as promising adjunctive tools to complement existing CRC screening methods. These biological indicators encompass a spectrum of molecular targets, including genetic mutations, epigenetic alterations, and protein expression profiles, which provide insights into the biological processes underlying CRC development and progression. Unlike traditional screening approaches, biomarkers offer the potential for non-invasive or minimally invasive testing, facilitating more widespread and accessible screening strategies [3].

Importance of early detection

Early detection of CRC is crucial as it significantly improves treatment outcomes and patient survival rates. Patients diagnosed with localized or early-stage CRC have higher chances of curative treatment through surgical resection or less aggressive therapies, compared to those diagnosed at advanced stages when the cancer has metastasized, leading to poorer prognoses [4]. Biomarkers capable of detecting CRC at its earliest stages can thus play a pivotal role in reducing mortality rates and improving quality of life for affected individuals. Emerging Biomarkers

Genetic and epigenetic markers

KRAS and BRAF Mutations: Mutations in KRAS and BRAF genes are associated with CRC pathogenesis and can serve as prognostic indicators. Detection of these mutations in tumor tissue or blood samples can guide treatment decisions and predict patient outcomes.

DNA Methylation Markers: Aberrant DNA methylation patterns, such as hypermethylation of the promoter regions of tumor suppressor genes (e.g., MLH1), are frequently observed in CRC. Methylation-specific PCR and other techniques enable the detection of these epigenetic changes, offering potential biomarkers for early detection and risk stratification [5].

Protein markers

Carcinoembryonic Antigen (CEA): CEA is a well-established biomarker for CRC, commonly used for monitoring disease progression and response to therapy. While not suitable for screening due to its lack of sensitivity and specificity, CEA remains valuable in clinical management and surveillance of CRC patients.

Fecal Biomarkers: Novel fecal biomarkers, such as stool DNA tests (e.g., Cologuard), detect genetic and epigenetic alterations associated with CRC. These non-invasive tests offer an alternative to traditional screening methods and have shown promise in improving early detection rates.

Liquid biopsy and circulating biomarkers

Liquid biopsy approaches, including circulating tumor DNA (ctDNA) and circulating tumor cells (CTCs), represent a paradigm shift in CRC detection and monitoring. These biomarkers enable real-time assessment of tumor dynamics and treatment response, offering potential for personalized therapy strategies [6].

Discussion

Clinical utility and challenges

The integration of novel biomarkers into clinical practice faces several challenges, including standardization of assays, validation in diverse patient populations, and cost-effectiveness. Biomarker panels combining multiple markers may enhance sensitivity and specificity, but their clinical utility requires rigorous validation and prospective studies [7].

Future directions

Future research directions include the development of multiplex biomarker assays, leveraging artificial intelligence for data interpretation, and exploring novel biomarkers that reflect the heterogeneity of CRC tumors. Improvements in technology and bioinformatics will be pivotal in advancing biomarker-based screening strategies and facilitating early intervention for CRC patients [8,9].

Conclusion

Colorectal cancer biomarkers represent a burgeoning field with significant potential to transform early detection and patient outcomes. While challenges remain in validation and clinical integration, biomarkers offer promise as adjunctive tools to existing screening methods, facilitating earlier diagnosis and personalized treatment strategies. Continued research and collaboration are essential to realize the full potential of biomarkers in reducing CRC incidence and mortality globally.

Acknowledgement

None

Conflict of Interest

None

References

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