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Original article
Prevalence of small-bowel neoplasia in Lynch syndrome assessed by video capsule endoscopy
  1. Jasmijn F Haanstra1,
  2. Abdul Al-Toma2,
  3. Evelien Dekker3,
  4. Steven A L W Vanhoutvin4,
  5. Fokko M Nagengast5,
  6. Elisabeth M Mathus-Vliegen3,
  7. Monique E van Leerdam4,6,
  8. Wouter H de Vos tot Nederveen Cappel7,
  9. Silvia Sanduleanu8,
  10. Roeland A Veenendaal9,
  11. Annemieke Cats4,
  12. Hans F A Vasen9,10,
  13. Jan H Kleibeuker1,
  14. Jan J Koornstra1
  1. 1Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
  2. 2Department of Gastroenterology and Hepatology, St Antonius Hospital, Nieuwegein, The Netherlands
  3. 3Department of Gastroenterology and Hepatology, Amsterdam Medical Center, Amsterdam, The Netherlands
  4. 4Department of Gastroenterology and Hepatology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital (NKI-AVL), Amsterdam, The Netherlands
  5. 5Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
  6. 6Department of Gastroenterology and Hepatology, Erasmus Medical Center, Rotterdam, The Netherlands
  7. 7Department of Gastroenterology and Hepatology, Isala Clinics, Zwolle, The Netherlands
  8. 8Department of Gastroenterology and Hepatology, Maastricht University Medical Center, Maastricht, The Netherlands
  9. 9Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, The Netherlands
  10. 10The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands
  1. Correspondence to Dr Jan J Koornstra, Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, P.O. box 30001, Groningen 9700 RB, The Netherlands; j.j.koornstra{at}


Objective The aim was to determine the prevalence of small-bowel neoplasia in asymptomatic patients with Lynch syndrome (LS) by video capsule endoscopy (VCE).

Design After obtaining informed consent, asymptomatic proven gene mutation carriers aged 35–70 years were included in this prospective multicentre study in the Netherlands. Patients with previous small-bowel surgery were excluded. After bowel preparation, VCE was performed. The videos were read by two independent investigators. If significant lesions were detected, an endoscopic procedure was subsequently performed to obtain histology and, if possible, remove the lesion.

Results In total, 200 patients (mean age 50 years (range 35–69), M/F 88/112), with proven mutations were included. These concerned MLH1 (n=50), MSH2 (n=68), MSH6 (n=76), PMS2 (n=3) and Epcam (n=3) mutation carriers. In 95% of the procedures, caecal visualisation was achieved. Small-bowel neoplasia was detected in two patients: one adenocarcinoma (TisN0Mx) and one adenoma, both located in the duodenum. In another patient, a duodenal cancer (T2N0Mx) was diagnosed 7 months after a negative VCE. This was considered a lesion missed by VCE. All three neoplastic lesions were within reach of a conventional gastroduodenoscope. All patients with neoplasia were men, over 50 years of age and without a family history of small-bowel cancer.

Conclusions The prevalence of small-bowel neoplasia in asymptomatic patients with LS was 1.5%. All neoplastic lesions were located in the duodenum and within reach of conventional gastroduodenoscopy. Although VCE has the potential to detect these neoplastic lesions, small-bowel neoplasia may be missed.

Trial registration number NCT00898768.


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