Blood-based biomarkers and novel technologies for the diagnosis of colorectal cancer and adenomas: a narrative review

Abstract

Aim: Blood-based biomarkers have shown promise for diagnosing colorectal cancer (CRC) and adenomas (CRA). This review summarizes recent studies in this area. Methods: A literature search was undertaken for 01/01/2017–01/03/2023. Criteria included CRC, CRA, liquid-biopsy, blood-based tests and diagnosis. Results: 12,378 studies were reduced to 178 for data extraction. Sixty focused on proteomics, 53 on RNA species, 30 on cfDNA methylation, seven on antigens and autoantibodies and 28 on novel techniques. 169 case control and nine cohort studies. Number of participants ranged 100–54,297, mean age 58.26. CRC sensitivity and specificity ranged 9.10–100% and 20.40–100%, respectively. CRA sensitivity and specificity ranged 8.00–95.70% and 4.00–97.00%, respectively. Conclusion: Sensitive and specific blood-based tests exist for CRC and CRA. However, studies demonstrate heterogenous techniques and reporting quality. Further work should concentrate on validation and meta-analyzes.

Summary points

• Stool tests are currently used to help diagnose colorectal cancer (CRC) and polyps which may eventually become cancer; however, people sometimes do not have any disease despite their test being positive.

• Blood tests have recently shown good results but none are commonly used. This review summarizes recent studies about blood tests for CRC and polyp diagnosis.

• We searched the literature in a structured way for studies about blood tests for CRC and polyps between 01/01/2017 and 01/03/2023. We looked at the types of tests used, the study characteristics and the reported results.

• 12,378 studies were found by the first literature searches and 178 studies were suitable to look at in fine detail. Sixty focused on proteomics, 53 on RNA species, 30 on cfDNA methylation, 7 on antigens and autoantibodies and 28 on other unusual techniques.

• Number of participants ranged from 100 to 54,297, with an average age of 58.

• CRC diagnostic sensitivity and specificity ranged from 9.10 to 100% and 20.40 to 100%, respectively.

• Polyp diagnostic sensitivity and specificity ranged from 8.00 to 95.70% and 4.00 to 97.00%, respectively.

• There is a growing field of accurate blood tests for CRC and polyps. However, current studies show a broad range of different techniques, accuracy and reporting quality which makes selecting the best candidates difficult.

• Further work should concentrate on larger validation studies and high-quality meta-analyzes to determine which tests may realistically be worth progressing into clinical use.

Keywords: :

• biomarkers
• cancer
• colorectal
• diagnosis
• polyps

Supplemental material

Supplementary data for this article can be accessed at https://doi.org/10.1080/17520363.2024.2345583

Acknowledgments

All contributing authors and their affiliations are listed here. The authors have no further acknowledgements.

Author contributions

D Magowan was involved in the conception, all levels of article screening, data collection, data analysis, writing and editing of this paper. M Abdulshafea was involved in all levels of article screening and undertook blinded data collection. D Thompson and S-I Rajmoorthy both undertook blinded data collection. D Harris was involved in the conception of this paper as well as title and abstract article screening and editing. R Owen was involved in the conception, data analysis and editing of this paper. S Prosser was the librarian involved in the proper conception of an appropriate literature search strategy and database selection.

Financial disclosure

The authors have no financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Competing interests disclosure

The authors have no competing interests or relevant affiliations with any organization or entity with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, stock ownership or options and expert testimony.

Writing disclosure

No writing assistance was utilized in the production of this manuscript.