Nassim Hammoudi1, Marion Dhooge2, Romain Coriat3, Sarah Leblanc1, Maximilien Barret3, Benoit Bordacahar1, Frederic Beuvon4, Frederic Prat3, Fanny Maksimovic1, Stanislas Chaussade3. 1. Gastroenterology Unit, Cochin University Hospital, Université Paris Descartes, Paris, France. 2. Gastroenterology Unit, Cochin University Hospital, Université Paris Descartes, Paris, France. Electronic address: marion.dhooge@aphp.fr. 3. Gastroenterology Unit, Cochin University Hospital, Université Paris Descartes, Paris, France; Unité INSERM U1016, Université Paris Descartes, Sorbonne Paris Cité, Paris, France. 4. Digestive Pathology Unit, Cochin University Hospital, Université Paris Descartes, Paris, France.
Abstract
BACKGROUND AND AIMS: Lynch syndrome (LS) is associated with an increased risk of small bowel tumors but routine screening is not recommended in international guidelines. The aim of our study was to determinate the prevalence of duodenal tumors in a French cohort of LS patients. METHODS: Patients carrying a germline pathogenic variant in a MMR gene, supported by our local network, in which at least one upper endoscopy had been performed, were included. We registered the occurrence of duodenal lesions in those patients. RESULTS: 154 LS patients were identified including respectively 85 MSH2 and 41 MLH1 mutated patients respectively. Seven out of 154 (4.5%) had at least one duodenal lesion. Median age at diagnosis was 58 years (range: 49-73). The twelve lesions locations were: descending duodenum (n = 7), genu inferius (n = 2), duodenal bulb (n = 1), ampulla (n = 1), fourth duodenum (n = 1). Three lesions were invasive adenocarcinomas. The incidence rate of duodenal lesions in patients with MSH2 or MLH1 pathogenic variants was respectively 7.1% (6 out of 85) and 2.4% (1 out of 41) emphasizing a trend toward increased risk of developing duodenal lesion in MSH2 mutated patients: OR: 5.17, IC95% (0.8-60.07), p = 0.1307. CONCLUSION: Regarding this high prevalence rate, especially in MSH2 patients, regular duodenal screening during upper endoscopy should be considered in routine in LS patients.
BACKGROUND AND AIMS: Lynch syndrome (LS) is associated with an increased risk of small bowel tumors but routine screening is not recommended in international guidelines. The aim of our study was to determinate the prevalence of duodenal tumors in a French cohort of LS patients. METHODS:Patients carrying a germline pathogenic variant in a MMR gene, supported by our local network, in which at least one upper endoscopy had been performed, were included. We registered the occurrence of duodenal lesions in those patients. RESULTS: 154 LS patients were identified including respectively 85 MSH2 and 41 MLH1 mutated patients respectively. Seven out of 154 (4.5%) had at least one duodenal lesion. Median age at diagnosis was 58 years (range: 49-73). The twelve lesions locations were: descending duodenum (n = 7), genu inferius (n = 2), duodenal bulb (n = 1), ampulla (n = 1), fourth duodenum (n = 1). Three lesions were invasive adenocarcinomas. The incidence rate of duodenal lesions in patients with MSH2 or MLH1 pathogenic variants was respectively 7.1% (6 out of 85) and 2.4% (1 out of 41) emphasizing a trend toward increased risk of developing duodenal lesion in MSH2 mutated patients: OR: 5.17, IC95% (0.8-60.07), p = 0.1307. CONCLUSION: Regarding this high prevalence rate, especially in MSH2patients, regular duodenal screening during upper endoscopy should be considered in routine in LS patients.
Authors: Maxime Amoyel; Arthur Belle; Marion Dhooge; Einas Abou Ali; Rachel Hallit; Frederic Prat; Anthony Dohan; Benoit Terris; Stanislas Chaussade; Romain Coriat; Maximilien Barret Journal: Endosc Int Open Date: 2022-01-14