Genetics and epigenetics of small bowel adenocarcinoma: The interactions of CIN, MSI, and CIMP

Modern Pathology

Volumn 24, Issue 4, 2011, Pages 564-570

  Warth, Arne ^a   Kloor, Matthias ^a   Schirmacher, Peter ^a   Bläker, Hendrik ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

BRAF; CIMP; CIN; KRAS; MSI; small bowel adenocarcinoma

Indexed keywords

B RAF KINASE; DNA; K RAS PROTEIN;

ADULT; AGED; ARTICLE; CANCER GENETICS; CHROMOSOMAL INSTABILITY; CHROMOSOME; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CPG ISLAND; CPG ISLAND METHYLATION PHENOTYPE; DNA METHYLATION; EPIGENETICS; FEMALE; GENE FREQUENCY; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MICROSATELLITE INSTABILITY; ONCOGENE K RAS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SMALL INTESTINE ADENOCARCINOMA; SMALL INTESTINE CARCINOMA; TUMOR LOCALIZATION;

ADENOCARCINOMA; ADULT; AGED; AGED, 80 AND OVER; CHROMOSOMAL INSTABILITY; COMPARATIVE GENOMIC HYBRIDIZATION; CPG ISLANDS; DNA METHYLATION; EPIGENESIS, GENETIC; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENOTYPE; GERMANY; HUMANS; INTESTINAL NEOPLASMS; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTATION; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS;

EID: 79953309255     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2010.223     Document Type: Article

References (46)

1. Schottenfeld D, Beebe-Dimmer JL, Vigneau FD. The epidemiology and pathogenesis of neoplasia in the small intestine. Ann Epidemiol 2009;19:58-69.
2. Watson P, Lynch HT. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 1993;71: 677-685. (Pubitemid 23051366)
3. Fearnhead NS, Britton MP, Bodmer WF. The ABC of APC. Hum Mol Genet 2001;10:721-733. (Pubitemid 32331581)
4. Piton G, Cosnes J, Monnet E, et al. Risk factors associated with small bowel adenocarcinoma in Crohn's disease: a case-control study. Am J Gastroenterol 2008;103:1730-1736.
5. Arai M, Shimizu S, Imai Y, et al. Mutations of the Ki-ras, p53 and APC genes in adenocarcinomas of the human small intestine. Int J Cancer 1997;70:390-395. (Pubitemid 27107264)
6. Rashid A, Hamilton SR. Genetic alterations in sporadic and Crohn's-associated adenocarcinomas of the small intestine. Gastroenterology 1997;113:127-135. (Pubitemid 27281766)
7. Blaker H, von Herbay A, Penzel R, et al. Genetics of adenocarcinomas of the small intestine: frequent deletions at chromosome 18q and mutations of the SMAD4 gene. Oncogene 2002;21:158-164. (Pubitemid 34076389)
8. Blaker H, Mechtersheimer G, Sutter C, et al. Recurrent deletions at 6q in early age of onset non-HNPCC-and non-FAP-associated intestinal carcinomas. Evidence for a novel cancer susceptibility locus at 6q14-q22. Genes Chromosomes Cancer 2008;47:159-164.
9. Wheeler JM, Warren BF, Mortensen NJ, et al. An insight into the genetic pathway of adenocarcinoma of the small intestine. Gut 2002;50:218-223. (Pubitemid 34087935)
10. Planck M, Ericson K, Piotrowska Z, et al. Microsatellite instability and expression of MLH1 and MSH2 in carcinomas of the small intestine. Cancer 2003;97: 1551-1557. (Pubitemid 36297785)
11. Hibi K, Kondo K, Akiyama S, et al. Frequent genetic instability in small intestinal carcinomas. Jpn J Cancer Res 1995;86:357-360.
12. Brueckl WM, Heinze E, Milsmann C, et al. Prognostic significance of microsatellite instability in curatively resected adenocarcinoma of the small intestine. Cancer Lett 2004;203:181-190. (Pubitemid 38063133)
13. Cunningham JM, Christensen ER, Tester DJ, et al. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res 1998; 58:3455-3460. (Pubitemid 28371090)
14. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003;348:919-932. (Pubitemid 36298000)
15. Gollin SM. Mechanisms leading to chromosomal instability. Semin Cancer Biol 2005;15:33-42. (Pubitemid 40018526)
16. Geigl JB, Obenauf AC, Schwarzbraun T, et al. Defining 'chromosomal instability'. Trends Genet 2008;24: 64-69.
17. Tang R, Changchien CR, Wu MC, et al. Colorectal cancer without high microsatellite instability and chromosomal instability-an alternative genetic pathway to human colorectal cancer. Carcinogenesis 2004;25:841-846. (Pubitemid 38618539)
18. Ostwald C, Linnebacher M, Weirich V, et al. Chromosomally and microsatellite stable colorectal carcinomas without the CpG island methylator phenotype in a molecular classification. Int J Oncol 2009; 35:321-327.
19. Bariol C, Suter C, Cheong K, et al. The relationship between hypomethylation and CpG island methylation in colorectal neoplasia. Am J Pathol 2003;162: 1361-1371. (Pubitemid 36350680)
20. Toyota M, Ahuja N, Ohe-Toyota M, et al. CpG island methylator phenotype in colorectal cancer. Proc Natl Acad Sci USA 1999;96:8681-8686. (Pubitemid 29354851)
21. Kim H, Kim YH, Kim SE, et al. Concerted promoter hypermethylation of hMLH1, p16INK4A, and E-cadherin in gastric carcinomas with microsatellite instability. J Pathol 2003;200:23-31. (Pubitemid 36592632)
22. Fleisher AS, Esteller M, Wang S, et al. Hypermethylation of the hMLH1 gene promoter in human gastric cancers with microsatellite instability. Cancer Res 1999;59:1090-1095. (Pubitemid 29135970)
23. Weisenberger DJ, Siegmund KD, Campan M, et al. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat Genet 2006; 38:787-793. (Pubitemid 43980599)
24. Wu M, Semba S, Oue N, et al. BRAF/K-ras mutation, microsatellite instability, and promoter hypermethylation of hMLH1/MGMT in human gastric carcinomas. Gastric Cancer 2004;7:246-253.
25. Jass JR. Classification of colorectal cancer based on correlation of clinical, morphological and molecular features. Histopathology 2007;50:113-130. (Pubitemid 44953403)
26. Michel S, Kloor M, Singh S, et al. Coding microsatellite instability analysis in microsatellite unstable small intestinal adenocarcinomas identifies MARCKS as a common target of inactivation. Mol Carcinog 2010; 49:175-182.
27. Boland CR, Thibodeau SN, Hamilton SR, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248-5257. (Pubitemid 28521189)
28. Findeisen P, Kloor M, Merx S, et al. T25 repeat in the 30 untranslated region of the CASP2 gene: a sensitive and specific marker for microsatellite instability in colorectal cancer. Cancer Res 2005;65:8072-8078. (Pubitemid 41330567)
29. Isola J, DeVries S, Chu L, et al. Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples. Am J Pathol 1994;145:1301-1308. (Pubitemid 24378485)
30. Chan AO, Issa JP, Morris JS, et al. Concordant CpG island methylation in hyperplastic polyposis. Am J Pathol 2002;160:529-536. (Pubitemid 34160330)
31. Esteller M, Hamilton SR, Burger PC, et al. Inactivation of the DNA repair gene O6-methylguanine-DNA methyltransferase by promoter hypermethylation is a common event in primary human neoplasia. Cancer Res 1999;59:793-797. (Pubitemid 29086728)
32. Herman JG, Graff JR, Myohanen S, et al. Methylationspecific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 1996;93: 9821-9826. (Pubitemid 26296693)
33. Park SJ, Rashid A, Lee JH, et al. Frequent CpG island methylation in serrated adenomas of the colorectum. Am J Pathol 2003;162:815-822. (Pubitemid 36237490)
34. Bergmann F, Singh S, Michel S, et al. Small bowel adenocarcinomas in celiac disease follow the CIM-MSI pathway. Oncol Rep 2010;24:1535-1539.
35. Blaker H, Helmchen B, Bonisch A, et al. Mutational activation of the RAS-RAF-MAPK and the Wnt pathway in small intestinal adenocarcinomas. Scand J Gastroenterol 2004;39:748-753. (Pubitemid 39093249)
36. Li LS, Kim NG, Kim SH, et al. Chromosomal imbalances in the colorectal carcinomas with microsatellite instability. Am J Pathol 2003;163:1429-1436. (Pubitemid 37175090)
37. Trautmann K, Terdiman JP, French AJ, et al. Chromosomal instability in microsatellite-unstable and stable colon cancer. Clin Cancer Res 2006;12:6379-6385. (Pubitemid 44799708)
38. Diosdado B, Buffart TE, Watkins R, et al. Highresolution array comparative genomic hybridization in sporadic and celiac disease-related small bowel adenocarcinomas. Clin Cancer Res 2010;16: 1391-1401.
39. Potter DD, Murray JA, Donohue JH, et al. The role of defective mismatch repair in small bowel adenocarcinoma in celiac disease. Cancer Res 2004;64: 7073-7077. (Pubitemid 39331019)
40. Svrcek M, Jourdan F, Sebbagh N, et al. Immunohistochemical analysis of adenocarcinoma of the small intestine: a tissue microarray study. J Clin Pathol 2003;56:898-903. (Pubitemid 37533230)
41. Hawkins NJ, Tomlinson I, Meagher A, et al. Microsatellite-stable diploid carcinoma: a biologically distinct and aggressive subset of sporadic colorectal cancer. Br J Cancer 2001;84:232-236. (Pubitemid 32113451)
42. Yao J, Eu KW, Seow-Choen F, et al. Microsatellite instability and aneuploidy rate in young colorectalcancer patients do not differ significantly from those in older patients. Int J Cancer 1999;80:667-670. (Pubitemid 29066275)
43. Chan TL, Curtis LC, Leung SY, et al. Early-onset colorectal cancer with stable microsatellite DNA and near-diploid chromosomes. Oncogene 2001;20: 4871-4876. (Pubitemid 32803157)
44. Breuhahn K, Singh S, Schirmacher P, et al. Large-scale N-terminal deletions but not point mutations stabilize beta-catenin in small bowel carcinomas, suggesting divergent molecular pathways of small and large intestinal carcinogenesis. J Pathol 2008;215: 300-307. (Pubitemid 351956711)
45. Cheng YW, Pincas H, Bacolod MD, et al. CpG island methylator phenotype associates with low-degree chromosomal abnormalities in colorectal cancer. Clin Cancer Res 2008;14:6005-6013.
46. Goel A, Nagasaka T, Arnold CN, et al. The CpG island methylator phenotype and chromosomal instability are inversely correlated in sporadic colorectal cancer. Gastroenterology 2007;132:127-138. (Pubitemid 46108731)