Abstract

Simple SummaryEarly diagnosis is crucial for reducing colorectal cancer-related mortality in both the general population and inflammatory bowel disease. Volatile organic compound (VOC) analysis is a promising alternative to the gold standard procedure, endoscopy, for early detection and surveillance of colorectal diseases. This review aimed to provide a general overview of the most recent evidence in this area on VOC testing in breath, stool, and urine samples.Colorectal cancer (CRC) is one of the leading causes of cancer-related death in the Western world. Early detection decreases incidence and mortality. Screening programs based on fecal occult blood testing help identify patients requiring endoscopic examination, but accuracy is far from optimal. Among the alternative strategies, volatile organic compounds (VOCs) represent novel potentially useful biomarkers of colorectal cancer. They also represent a promising tool for the screening of both intestinal inflammation and related CRC. The review is focused on the diagnostic potential of VOCs in sporadic CRC and in inflammatory bowel diseases (IBD), which increase the risk of CRC, analyzing future clinical applications. Despite limitations related to inadequate strength of evidence, differing analytical platforms identify different VOCs, and this unconventional approach for diagnosing colorectal cancer is promising. Some VOC profiles, besides identifying inflammation, seem disease-specific in inflammatory bowel diseases. Thus, breath, urine, and fecal VOCs provide a new and promising clinical approach to differential diagnosis, evaluation of the inflammatory status, and possibly the assessment of treatment efficacy in IBD. Conversely, specific VOC patterns correlating inflammatory bowel disease and cancer risk are still lacking, and studies focused on this issue are strongly encouraged. No prospective studies have assessed the risk of CRC development by using VOCs in samples collected before the onset of disease, both in the general population and in patients with IBD.

Highlights

  • Despite all the above-mentioned shortcomings, volatile organic compounds (VOCs) analysis could be reasonably effective in separating inflammatory bowel disease (IBD) or Colorectal cancer (CRC) patients from the controls (Figure 3)

  • Focus studies on the interrelation between bacterial metabolism, disease, and specific VOC pattern, and the mechanism leading to their production are needed to explore the full potential of this novel tool

  • Besides identifying specific VOCs pattern in adenoma, sporadic CRC, and IBD in the presence or absence of high-grade dysplasia, it shall be crucial to establish the relationship between VOCs and the underlying disease

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Summary

Introduction

Colorectal carcinoma (CRC), with an estimated incidence of 1.4 million patients/year, is one of the most common malignancies worldwide [1]. Prevention and early diagnosis reduce mortality, both in sporadic CRC and inflammatory bowel disease (IBD)-related. CRC with a five-year survival approaching 90% [1]. Identification and treatment of preneoplastic lesions in the general population and dysplasia in IBD are crucial. As bowel symptoms and fecal tests are non-specific [2], endoscopic screening represents the gold standard for early diagnosis of CRC [3]. Being invasive, endoscopy is not well accepted by a large proportion of patients, reducing the effectiveness of screening programs [4] and the efficacy of the therapeutic options

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