Small-bowel capsule endoscopy diagnoses early and advanced neoplasms in asymptomatic patients with Lynch syndrome

Background and study aims: Patients with Lynch syndrome are at increased risk of developing small-bowel adenocarcinoma, which usually has a bad prognosis and needs to be diagnosed early. Our aim was to evaluate the yield of capsule endoscopy and CT enteroclysis in this situation.

Patients and methods: We performed a prospective, blinded, comparative study of capsule endoscopy and CT enteroclysis in five academic centers. Thirty-five consecutive asymptomatic patients with Lynch syndrome, all with one proven deleterious mutation, were included. A double reading was performed blind for both types of examination.

Results: Histologically confirmed small-bowel neoplasms were diagnosed in three patients (8.6 %): one adenocarcinoma (T3N0M0) and two adenomas with low-grade dysplasia. Capsule endoscopy identified all neoplasms. CT enteroclysis raised suspicion of one neoplasm (adenocarcinoma) but missed the two others. Concordance between the two capsule readings was high with a κ value of 0.78 (95 %CI 0.55 to 1.0), which was not the case for CT enteroclysis, where the κ value was 0.15 (95 %CI –0.27 to 0.58).

Conclusion: Curable early or advanced neoplasms in asymptomatic patients with Lynch syndrome using capsule endoscopy can be detected with a better reproducibility than with CT enteroclysis. The clinical usefulness of systematic small-bowel screening in these patients should be confirmed through large prospective studies.

References

• 1 Jagelman D G, DeCosse J J, Bussey H J. Upper gastrointestinal cancer in familial adenomatous polyposis.  Lancet. 1988;  1 1149-1151
• 2 Giardiello F M, Trimbath J D. Peutz-Jeghers syndrome and management recommendations.  Clin Gastroenterol Hepatol. 2006;  4 408-415
• 3 Watson P, Vasen H F, Mecklin J P. et al . The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome.  Int J Cancer. 2008;  123 444-449
• 4 Koornstra J J, Mourits M J, Sijmons R H. et al . Management of extracolonic tumours in patients with Lynch syndrome.  Lancet Oncol. 2009;  10 400-408
• 5 Barrow E, Robinson L, Alduaij W. et al . Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations.  Clin Genet. 2009;  75 141-149
• 6 Aarnio M, Mecklin J P, Aaltonen L A. et al . Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome.  Int J Cancer. 1995;  64 430-433
• 7 Rodriguez-Bigas M A, Vasen H F, Lynch H T. et al . Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma. International Collaborative Group on HNPCC.  Cancer. 1998;  83 240-244
• 8 Frost D B, Mercado P D, Tyrell J S. Small bowel cancer: a 30-year review.  Ann Surg Oncol. 1994;  1 290-295
• 9 Pilleul F, Penigaud M, Milot L. et al . Possible small-bowel neoplasms: contrast-enhanced and water-enhanced multidetector CT enteroclysis.  Radiology. 2006;  241 796-801
• 10 Baichi M M, Arifuddin R M, Mantry P S. Small-bowel masses found and missed on capsule endoscopy for obscure bleeding.  Scand J Gastroenterol. 2007;  42 1127-1132
• 11 Marmo R, Rotondano G, Riccio G. et al . Small-bowel adenocarcinoma diagnosed via capsule endoscopy in a patient found to have hereditary nonpolyposis colorectal cancer.  Gastrointest Endosc. 2007;  65 524-525, discussion 525
• 12 Baichi M M, Arifuddin R M, Mantry P S. Metachronous small bowel adenocarcinomas detected by capsule endoscopy in a patient with hereditary nonpolyposis colorectal cancer.  Dig Dis Sci. 2007;  52 1134-1136
• 13 Oshitani N, Yukawa T, Yamagami H. et al . Evaluation of deep small bowel involvement by double-balloon enteroscopy in Crohn’s disease.  Am J Gastroenterol. 2006;  101 1484-1489
• 14 Saurin J C, Delvaux M, Gaudin J L. et al . Diagnostic value of endoscopic capsule in patients with obscure digestive bleeding: blinded comparison with video push-enteroscopy.  Endoscopy. 2003;  35 576-584
• 15 Saurin J C, Napoleon B, Gay G. et al . Endoscopic management of patients with familial adenomatous polyposis (FAP) following a colectomy.  Endoscopy. 2005;  37 499-501
• 16 Jarvinen H J, Aarnio M, Mustonen H. et al . Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer.  Gastroenterology. 2000;  118 829-834
• 17 Ross A, Mehdizadeh S, Tokar J. et al . Double balloon enteroscopy detects small bowel mass lesions missed by capsule endoscopy.  Dig Dis Sci. 2008;  53 2140-2143