Abstract
Treatment of inflammatory bowel disease (IBD) requires a multidisciplinary approach which relies heavily on pathology to subclassify the disease as ulcerative colitis (UC) or Crohn’s disease (CD), grade inflammatory activity, and assess for the presence of dysplasia. Despite the increasing use of molecular approaches by the modern pathologist, diagnosis and evaluation of IBD is achieved principally through microscopic examination of hematoxylin and eosin (H&E) stained tissue and gross examination of surgically resected specimens. However, as our understanding of IBD increases, there is likely to be an ever-increasing role of genetics in the IBD diagnosis and assessment. In this chapter, pathological diagnosis of IBD and how genetics may play an increasingly important role in IBD diagnosis and treatment are discussed.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Paterson JC, Watson SH. Paneth cell metaplasia in ulcerative colitis. Am J Pathol. 1961;38:243–9.
D’Haens G, Geboes K, Peeters M, Baert F, Ectors N, Rutgeerts P. Patchy cecal inflammation associated with distal ulcerative colitis: a prospective endoscopic study. Am J Gastroenterol. 1997;92(8):1275–9.
Ladefoged K, Munck LK, Jorgensen F, Engel P. Skip inflammation of the appendiceal orifice: a prospective endoscopic study. Scand J Gastroenterol. 2005;40(10):1192–6.
Yang SK, Jung HY, Kang GH, et al. Appendiceal orifice inflammation as a skip lesion in ulcerative colitis: an analysis in relation to medical therapy and disease extent. Gastrointest Endosc. 1999;49(6):743–7.
Washington K, Greenson JK, Montgomery E, et al. Histopathology of ulcerative colitis in initial rectal biopsy in children. Am J Surg Pathol. 2002;26(11):1441–9.
Markowitz J, Kahn E, Grancher K, Hyams J, Treem W, Daum F. Atypical rectosigmoid histology in children with newly diagnosed ulcerative colitis. Am J Gastroenterol. 1993;88(12):2034–7.
Davila RE, Rajan E, Baron TH, et al. ASGE guideline: colorectal cancer screening and surveillance. Gastrointest Endosc. 2006;63(4):546–57.
Rubin DT, Turner JR. Surveillance of dysplasia in inflammatory bowel disease: the gastroenterologist-pathologist partnership. Clin Gastroenterol Hepatol. 2006;4(11):1309–13.
Sartor RB. Mechanisms of disease: pathogenesis of Crohn’s disease and ulcerative colitis. Nature clinical practice. Gastroenterol Hepatol. 2006;3(7):390–407.
Liu JZ, Anderson CA. Genetic studies of Crohn’s disease: past, present and future. Best practice & research. Clin Gastroenterol. 2014;28(3):373–86.
Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn’s disease. Nature. 2001;411(6837):603–6.
Jostins L, Ripke S, Weersma RK, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 2012;491(7422):119–24.
Liu JZ, van Sommeren S, Huang H, et al. Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. Nat Genet. 2015;47(9):979–86.
Huang C, Haritunians T, Okou DT, et al. Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans. Gastroenterology. 2015;149(6):1575–86.
Hampe J, Franke A, Rosenstiel P, et al. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet. 2007;39(2):207–11.
Rioux JD, Xavier RJ, Taylor KD, et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet. 2007;39(5):596–604.
Duerr RH, Taylor KD, Brant SR, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science. 2006;314(5804):1461–3.
Sarin R, Wu X, Abraham C. Inflammatory disease protective R381Q IL23 receptor polymorphism results in decreased primary CD4+ and CD8+ human T-cell functional responses. Proc Natl Acad Sci U S A. 2011;108(23):9560–5.
Fairfax BP, Humburg P, Makino S, et al. Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression. Science. 2014;343(6175):1246949.
Raine T, Liu JZ, Anderson CA, Parkes M, Kaser A. Generation of primary human intestinal T cell transcriptomes reveals differential expression at genetic risk loci for immune-mediated disease. Gut. 2015;64(2):250–9.
Ning K, Gettler K, Zhang W, et al. Improved integrative framework combining association data with gene expression features to prioritize Crohn’s disease genes. Hum Mol Genet. 2015;24(14):4147–57.
Uhlig HH. Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease. Gut. 2013;62(12):1795–805.
Worthey EA, Mayer AN, Syverson GD, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med Off J Am Coll Med Genet. 2011;13(3):255–62.
Glocker EO, Kotlarz D, Boztug K, et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med. 2009;361(21):2033–45.
McGovern DP, Kugathasan S, Cho JH. Genetics of inflammatory bowel diseases. Gastroenterology 2015; 149(5):1163–76.e1162.
Plevy S, Silverberg MS, Lockton S, et al. Combined serological, genetic, and inflammatory markers differentiate non-IBD, Crohn’s disease, and ulcerative colitis patients. Inflamm Bowel Dis. 2013;19(6):1139–48.
Begue B, Verdier J, Rieux-Laucat F, et al. Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. Am J Gastroenterol. 2011;106(8):1544–55.
Engelhardt KR, Shah N, Faizura-Yeop I, et al. Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2013;131(3):825–30.
Glocker EO, Frede N, Perro M, et al. Infant colitis – it’s in the genes. Lancet. 2010;376(9748):1272.
Kaskas BA, Louis E, Hindorf U, et al. Safe treatment of thiopurine S-methyltransferase deficient Crohn’s disease patients with azathioprine. Gut. 2003;52(1):140–2.
Lennard L, Lilleyman JS, Van Loon J, Weinshilboum RM. Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. Lancet. 1990;336(8709):225–9.
Seidman EG. Clinical use and practical application of TPMT enzyme and 6-mercaptopurine metabolite monitoring in IBD. Rev Gastroenterol Disord. 2003;3(Suppl 1):S30–8.
Haritunians T, Taylor KD, Targan SR, et al. Genetic predictors of medically refractory ulcerative colitis. Inflamm Bowel Dis. 2010;16(11):1830–40.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2017 Springer International Publishing AG
About this chapter
Cite this chapter
Shen, L., Weber, C.R. (2017). Pathological Diagnosis of Inflammatory Bowel Disease. In: Cohen, R. (eds) Inflammatory Bowel Disease. Clinical Gastroenterology. Humana Press, Cham. https://doi.org/10.1007/978-3-319-53763-4_8
Download citation
DOI: https://doi.org/10.1007/978-3-319-53763-4_8
Published:
Publisher Name: Humana Press, Cham
Print ISBN: 978-3-319-53761-0
Online ISBN: 978-3-319-53763-4
eBook Packages: MedicineMedicine (R0)