Duodenal involvement in MUTYH-associated polyposis: findings from an international study and implications for endoscopic surveillance.

OBJECTIVES: This study aimed to better document incidence and progression of duodenal disease in MUTYH-associated polyposis (MAP). METHODS: Incidences of duodenal cancer, and duodenal polyposis by age and genotype were assessed in individuals with genetically confirmed MAP. RESULTS: At first endoscopy, 91/679 participants (13.4%) had duodenal adenoma(s) at a median age of 53 years (range 22 to 81 years). 439/679 participants had 1370 further endoscopies, over a median period of 6.3 years (range 1 month to 30 years). This included 365 without adenomas at first endoscopy, of whom 83 (22.7%) developed non-ampullary adenomas during follow-up at a median age of 53 years (range 29-76). Thirty-eight adenomas (5.5%) contained high-grade dysplasia (HGD), of which thirty-five had a known size and 20 (57.1%) of these were 10mm or smaller. Ampullary lesions were uncommon (31/679, 4.6%). Duodenal cancer was diagnosed in 5/679 participants (0.74%) at a median age of 65 years (range 47-83 years) and at a median of 12 months (range 9-24 months) following a surveillance endoscopy. At least four were located distally (in the third or fourth part). The cumulative incidences of duodenal adenomas and cancer at 70 years were 16.5-63.5%, depending on genotype, and 0.58%, respectively. Adenoma incidence was significantly higher in Y179C (hazard ratio 5.33 (2.94-9.67, <0.001) and E480X (4.07 (2.16-7.67), <0.001) than G396D homozygotes. CONCLUSIONS: Future clinical guidelines for MAP should consider genotype-specific recommendations for duodenal surveillance, the importance of assessing the distal duodenum (i.e. D3, D4) and polypectomy of all detectable adenomas.

Authors

Institutions

Publication Details

Journal
The American Journal of Gastroenterology
Published
2026-10-13
DOI
https://doi.org/10.14309/ajg.0000000000004220
Primary Topic
Genetic factors in colorectal cancer
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Duodenal involvement in MUTYH-associated polyposis: findings from an international study and implications for endoscopic surveillance.

Susan K. Clark, Arthur S. Aelvoet, Andrew R. Latchford, Hans F. A. Vasen et al.
The American Journal of Gastroenterology
Genetic factors in colorectal cancer
article

Duodenal involvement in MUTYH-associated polyposis: findings from an international study and implications for endoscopic surveillance.

Susan K. Clark, Arthur S. Aelvoet, Andrew R. Latchford, Hans F. A. Vasen, Marco Vitellaro, Núria Dueñas, Rebekah Truscott, Karl Heinimann, Robert Hüneburg, Christine M. Drogan, Karin van der Tuin, Bryson W. Katona, Gabriel Capellá, Maureen E. Mork, Evelien Dekker, Chrystelle Colas, Julian R. Sampson, Anthony J. Scott, Lars Joachim Lindberg, Maria Teresa Ricci, Antoine Dardenne, Eduardo Vilar, Maartje Nielsen, Monique Esther van Leerdam, Arron Lacey, Laura E. Thomas, Ann-Sofie Backman, Sunil Dolwani, Yann R. Parc, Sara González, Zeinab Ghorbanoghli, Olivier Vinet, Kalaikshiga Kengadaran, Hannah D. West, Ángel Alonso, Monaco Claudia, Caroline Ledertoug Kahn, Elena Stoffel, Derek Mann, Sonia S. Kupfer, Joanna J. Hurley, Erika Koeppe, Matilde Navarro Garcia, M. Rosario Aznárez, Imogen Bennett, Jean-Christophe Saurin, Maribel Verdesoto Rodriguez, Jan Bjork
article en

Abstract

OBJECTIVES: This study aimed to better document incidence and progression of duodenal disease in MUTYH-associated polyposis (MAP). METHODS: Incidences of duodenal cancer, and duodenal polyposis by age and genotype were assessed in individuals with genetically confirmed MAP. RESULTS: At first endoscopy, 91/679 participants (13.4%) had duodenal adenoma(s) at a median age of 53 years (range 22 to 81 years). 439/679 participants had 1370 further endoscopies, over a median period of 6.3 years (range 1 month to 30 years). This included 365 without adenomas at first endoscopy, of whom 83 (22.7%) developed non-ampullary adenomas during follow-up at a median age of 53 years (range 29-76). Thirty-eight adenomas (5.5%) contained high-grade dysplasia (HGD), of which thirty-five had a known size and 20 (57.1%) of these were 10mm or smaller. Ampullary lesions were uncommon (31/679, 4.6%). Duodenal cancer was diagnosed in 5/679 participants (0.74%) at a median age of 65 years (range 47-83 years) and at a median of 12 months (range 9-24 months) following a surveillance endoscopy. At least four were located distally (in the third or fourth part). The cumulative incidences of duodenal adenomas and cancer at 70 years were 16.5-63.5%, depending on genotype, and 0.58%, respectively. Adenoma incidence was significantly higher in Y179C (hazard ratio 5.33 (2.94-9.67, <0.001) and E480X (4.07 (2.16-7.67), <0.001) than G396D homozygotes. CONCLUSIONS: Future clinical guidelines for MAP should consider genotype-specific recommendations for duodenal surveillance, the importance of assessing the distal duodenum (i.e. D3, D4) and polypectomy of all detectable adenomas.

The American Journal of Gastroenterology
Leiden University (NL), University of Copenhagen (DK), University Medical Center Groningen (NL), The University of Texas MD Anderson Cancer Center (US), University of Bonn (DE), University of Basel (CH), University of Michigan (US), University Hospital Bonn (DE), Leiden University Medical Center (NL), Hvidovre Hospital (DK), University Hospital of Basel (CH), Royal Glamorgan Hospital (GB), Karolinska Institutet (SE), The Netherlands Cancer Institute (NL), Swansea University (GB), Sorbonne Université (FR), University of Chicago (US), Institut d'Investigació Biomédica de Bellvitge (ES), Assistance Publique – Hôpitaux de Paris (FR), Complejo Hospitalario de Navarra (ES), Hôpital Saint-Antoine (FR), Ersta sjukhus (SE), Institut Català d'Oncologia (ES), Amsterdam Neuroscience (NL), Pitié-Salpêtrière Hospital (FR), Hôpital Edouard Herriot (FR), Centre de Recherche Saint-Antoine (FR), Fondazione IRCCS Istituto Nazionale dei Tumori (IT), Centro de Investigación Biomédica en Red de Cáncer (ES), St Mark's Hospital (GB), Imperial College London (GB), Cardiff University (GB), University of Pennsylvania (US), Institut Curie (FR), University of Amsterdam (NL)
Openalex Percentile: Top 13%
Genetic factors in colorectal cancer
DOISourceOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.