Abstract
Lynch syndrome, previously called hereditary nonpolyposis colorectal cancer (HNPCC), is one of the most common digestive genetic diseases, occurring in 1 person out of 2,000. Involvement of the small bowel is much less frequent (about 4 % cumulative risk of cancer) than colorectal involvement (50–60 % cumulative risk). However, prospective studies have shown an 8.5 % detection rate of neoplasia (adenoma, cancer) at capsule endoscopy in asymptomatic patients [1] (Figs. 37.1 and 37.2), including advanced cancer without anemia. It is likely that capsule endoscopy has lower sensitivity for adenocarcinoma detection [2, 3]. Systematic screening using capsule endoscopy is not recommended for these patients and is probably not cost-effective, but capsule endoscopy should be performed if unexplained anemia is present. Some specialized centers do routinely perform capsule endoscopy in these patients as screening for small-bowel cancer. Whenever upper digestive endoscopy is performed, careful attention should be paid to flat, distal duodenal adenomas, best detected by classic, forward-viewing gastroscopy.
The work was first published in 2006 by Springer Medizin Verlag Heidelberg with the following title: Atlas of Video Capsule Endoscopy.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
Saurin JC, Pilleul F, Soussan EB, et al. Small-bowel capsule endoscopy diagnoses early and advanced neoplasms in asymptomatic patients with Lynch syndrome. Endoscopy. 2010;42:1057–62.
Baichi MM, Arifuddin RM, Mantry PS. Small-bowel masses found and missed on capsule endoscopy for obscure bleeding. Scand J Gastroenterol. 2007;42:1127–32.
Ross A, Mehdizadeh S, Tokar J, et al. Double balloon enteroscopy detects small bowel mass lesions missed by capsule endoscopy. Dig Dis Sci. 2008;53:2140–3.
Brosens LA, van Hattem A, Hylind LM, et al. Risk of colorectal cancer in juvenile polyposis. Gut. 2007;56:965–7.
Postgate AJ, Will OC, Fraser CH, et al. Capsule endoscopy for the small bowel in juvenile polyposis syndrome: a case series. Endoscopy. 2009;41:1001–4.
Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet. 2004;41:323–6.
Bencheqroun R, Meary N, Laroche L, et al. Cowden syndrome, first case investigated using electronic video capsule. Acta Endosc. 2005;35:227–32.
Tan MH, Mester JL, Ngeow J, et al. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res. 2012;18:400–7.
Sweetser S, Ahlquist DA, Osborn NK, et al. Clinicopathologic features and treatment outcomes in Cronkhite-Canada syndrome: support for autoimmunity. Dig Dis Sci. 2011;57:496–502.
Sweetser S, Boardman LA. Cronkhite-Canada syndrome: an acquired condition of gastrointestinal polyposis and dermatologic abnormalities. Gastroenterol Hepatol (NY). 2012;8:201–3.
Cao XC, Wang BM, Han ZC. Wireless capsule endoscopic finding in Cronkhite-Canada syndrome. Gut. 2006;55:899–900.
Camacho CP, Hoff AO, Lindsey SC, et al. Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians. Arq Bras Endocrinol Metabol. 2008;52:1393–8.
Carney JA, Go VL, Sizemore GW, Hayles AB. Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b. N Engl J Med. 1976;295:1287–91.
Coriat R, Mozer M, Caux F, et al. Endoscopic findings in Cowden syndrome. Endoscopy. 2012;43:723–6.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2014 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Saurin, JC., Benamouzig, R., Seitz, U. (2014). HNPCC and Rare Syndromes. In: Keuchel, M., Hagenmüller, F., Tajiri, H. (eds) Video Capsule Endoscopy. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-44062-9_37
Download citation
DOI: https://doi.org/10.1007/978-3-662-44062-9_37
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-44061-2
Online ISBN: 978-3-662-44062-9
eBook Packages: MedicineMedicine (R0)