Faecal Volatile Organic Compounds to Detect Colorectal Neoplasia in Lynch Syndrome-A Prospective Longitudinal Multicentre Study.

Autor: van Liere ELSA; Department of Gastroenterology and Hepatology, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism Research Institute, Amsterdam, The Netherlands., Ramsoekh D; Department of Gastroenterology and Hepatology, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism Research Institute, Amsterdam, The Netherlands., Daulton E; School of Engineering, University of Warwick, Coventry, UK., Dakkak M; Department of Gastroenterology and Hepatology, Amsterdam University Medical Center, Amsterdam, The Netherlands.; School of Medicine, Vrije Universiteit, Amsterdam, The Netherlands., van Lingen JM; Department of Gastroenterology and Hepatology, Amsterdam University Medical Center, Amsterdam, The Netherlands.; School of Medicine, Vrije Universiteit, Amsterdam, The Netherlands., Stewart TK; School of Engineering, University of Warwick, Coventry, UK., Bosch S; Department of Gastroenterology and Hepatology, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism Research Institute, Amsterdam, The Netherlands., Carvalho B; Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands., Dekker E; Department of Gastroenterology and Hepatology, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism Research Institute, Amsterdam, The Netherlands., Jacobs MAJM; Department of Gastroenterology and Hepatology, Amsterdam University Medical Center, Amsterdam, The Netherlands., Koornstra JJ; Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Kuijvenhoven JP; Department of Gastroenterology and Hepatology, Spaarne Gasthuis, Hoofddorp, The Netherlands., van Leerdam ME; Department of Gastrointestinal Oncology, Netherlands Cancer Institute, Amsterdam, The Netherlands.; Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, The Netherlands., de Meij TGJ; Amsterdam Gastroenterology Endocrinology Metabolism Research Institute, Amsterdam, The Netherlands.; Department of Paediatric Gastroenterology, Amsterdam University Medical Center, Amsterdam, The Netherlands., Meijer GA; Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands., Spaander MCW; Department of Gastroenterology and Hepatology, Erasmus University Medical Center, Rotterdam, The Netherlands., Covington JA; School of Engineering, University of Warwick, Coventry, UK., de Boer NKH; Department of Gastroenterology and Hepatology, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism Research Institute, Amsterdam, The Netherlands.
Jazyk: angličtina
Zdroj: Alimentary pharmacology & therapeutics [Aliment Pharmacol Ther] 2025 Jan; Vol. 61 (1), pp. 145-158. Date of Electronic Publication: 2024 Oct 18.
DOI: 10.1111/apt.18328
Abstrakt: Background: Non-invasive biomarkers may reduce post-colonoscopy colorectal cancer (CRC) rates and colonoscopy overuse in Lynch syndrome. Unlike faecal immunochemical test (FIT), faecal volatile organic compounds (VOCs) may accurately detect both 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 colonoscopy intervals in Lynch syndrome.
Methods: Prospective longitudinal multicentre study in which individuals with Lynch syndrome collected faeces before and after 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 combined with 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, 6 advanced adenoma (AA), 3 advanced serrated lesion (ASL), and 50 non-advanced adenoma (NAA). Respective sensitivity and negative 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% and 44% (FAIMS) and 84% and 28% (GC-IMS); accuracy did not significantly improve upon VOC-FIT. VOC-patterns differed before and after polypectomy (AUC 0.70). NAA showed decreased faecal abundance of butanal, 2-oxohexane, dimethyldisulphide and dimethyltrisulphide.
Conclusions: In Lynch syndrome, faecal VOCs may be a promising strategy for postponing colonoscopy and for follow-up after polypectomy. Our results serve as a stepping stone for large validation studies.
Trial Registration: NL8749.
(© 2024 The Author(s). Alimentary Pharmacology & Therapeutics published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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