Faecal volatile organic compounds to detect colorectal neoplasia in Lynch syndrome: a prospective longitudinal multicentre study

Author(s):
Liere, E.L.S.A. van; Ramsoekh, D.; Daulton, E.; Dakkak, M.; Lingen, J.M. van; Stewart, T.K.; Bosch, S.; Carvalho, B.; Dekker, E.; Jacobs, M.A.J.M.; Koornstra, J.J.; Kuijvenhoven, J.P.; Leerdam, M.E. van (0000-0002-5719-3208); Meij, T.G.J. de; Meijer, G.A.; Spaander, M.C.W.; Covington, J.A.; Boer, N.K.H. de
Published
2024
Publication type
Article / Letter to editor

Abstract

Background: Non-invasive biomarkers may reduce post-colonoscopy colorectal cancer (CRC) rates and colonoscopy overuse inLynch syndrome. Unlike faecal immunochemical test (FIT), faecal volatile organic compounds (VOCs) may accurately detectboth advanced and non-advanced colorectal neoplasia.Aim: The aim of this study was to evaluate the potential of faecal VOCs—separately and with FIT—to guide optimal colonos-copy intervals in Lynch syndrome.Methods: Prospective longitudinal multicentre study in which individuals with Lynch syndrome collected faeces before andafter high-quality surveillance colonoscopy. VOC-patterns were analysed using field asymmetric ion mobility spectrometry(FAIMS) and gas chromatography-ion mobility spectrometry (GC-IMS) followed by machine learning pipelines, and combinedwith FIT at 2.55 μg Hb/g faeces. Gas chromatography time-of-flight mass spectrometry analysed individual VOC abundance.Results: Among 200 included individuals (57% female, median 51 years), 62 had relevant neoplasia at colonoscopy: 3 CRC, 6advanced adenoma (AA), 3 advanced serrated lesion (ASL), and 50 non-advanced adenoma (NAA). Respective sensitivity andnegative predictive value for CRC and AA (and also ASL in case of FAIMS) were 100% and 100% using FAIMS (54% specificity),and 89% and 99% using GC-IMS (58% specificity). Respective sensitivity and specificity for any relevant neoplasia were 88% and44% (FAIMS) and 84% and 28% (GC-IMS); accuracy did not significantly improve upon VOC-FIT. VOC-patterns differed beforeand after polypectomy (AUC 0.70). NAA showed decreased faecal abundance of butanal, 2-oxohexane, dimethyldisulphide anddimethyltrisulphide.

biomarkerscolorectal cancerfaecal immunochemical testLynch syndromesurveillancevolatile organic compounds
Date issued
2024-10-18
Language
English
Is part of
Alimentary Pharmacology and Therapeutics
hdl
1887/4107579
doi
10.1111/apt.18328