Polymorphisms in the 3'-untranslated region of the CDH1 gene are a risk factor for primary gastric diffuse large B-cell lymphoma

Haematologica

Volumn 96, Issue 7, 2011, Pages 987-995

  Jacobs, Gunnar ^a   Hellmig, Stephan ^b,e   Huse, Klaus ^c   Titz, Andrea ^b   Franke, Andre ^a   Kwiatkowski, Ruta ^a   Ott, Stephan ^b   Kosmahl, Markus ^b   Fischbach, Wolfgang ^d   Lucius, Ralph ^a   Klapper, Wolfram ^b   Fölsch, Ulrich R ^b   Hampe, Jochen ^b   Schreiber, Stefan ^a,b   Rosenstiel, Philip ^a  

^a UNIVERSITY OF KIEL   (Germany)

^b UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^c FRITZ LIPMANN INSTITUTE   (Germany)

^d Aschaffenburg Hospital   (Germany)

^e Schlei Klinikum Schleswig MLK   (Germany)

Author keywords

Allelic imbalance; CDH1; E cadherin; H. pylori; Lymphoma

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA; UVOMORULIN;

3' UNTRANSLATED REGION; ADULT; AGED; ALLELIC IMBALANCE; ARTICLE; CDH1 GENE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LARGE CELL LYMPHOMA; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIMARY GASTRIC DIFFUSE LARGE B CELL LYMPHOMA; PYROSEQUENCING; RISK FACTOR; RNA STABILITY; SINGLE NUCLEOTIDE POLYMORPHISM; STOMACH LYMPHOMA;

3' UNTRANSLATED REGIONS; ADULT; AGED; CADHERINS; FEMALE; GENE ORDER; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; LYMPHOMA, LARGE B-CELL, DIFFUSE; LYMPHOMA, NON-HODGKIN; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; RNA STABILITY; STOMACH NEOPLASMS;

EID: 79959954108     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2010.033126     Document Type: Article

References (64)

1. Isaacson P, Wright DH. Extranodal malignant lymphoma arising from mucosa-associated lymphoid tissue. Cancer. 1984;53 (11):2515-24.
2. Wotherspoon AC, Ortiz-Hidalgo C, Falzon MR, Isaacson PG. Helicobacter pylori-associated gastritis and primary B-cell gastric lymphoma. Lancet. 1991;338(8776):1175-6.
3. Chen LT, Lin JT, Tai JJ, Chen GH, Yeh HZ, Yang SS, et al. Long-term results of anti-Helicobacter pylori therapy in early-stage gastric high-grade transformed MALT lymphoma. J Natl Cancer Inst. 2005;97(18):1345-53.
4. Chen LT, Lin JT, Shyu RY, Jan CM, Chen CL, Chiang IP, et al. Prospective study of Helicobacter pylori eradication therapy in stage I(E) high-grade mucosa-associated lymphoid tissue lymphoma of the stomach. J Clin Oncol. 2001;19(22):4245-51.
5. Morgner A, Miehlke S, Fischbach W, Schmitt W, Muller-Hermelink H, Greiner A, et al. Complete remission of primary high-grade B-cell gastric lymphoma after cure of Helicobacter pylori infection. J Clin Oncol. 2001;19(7):2041-8.
6. Fischbach W. Gastric mucosa-associated lymphoid tissue lymphoma: a challenge for endoscopy. Gastrointest Endosc. 2008;68 (4):632-4.
7. Cavanna L, Pagani R, Seghini P, Zangrandi A, Paties C. High grade B-cell gastric lymphoma with complete pathologic remission after eradication of Helicobacter pylori infection: report of a case and review of the literature. World J Surg Oncol. 2008;6:35.
8. Andriani A, Zullo A, Di Raimondo F, Patti C, Tedeschi L, Recine U, et al. Clinical and endoscopic presentation of primary gastric lymphoma: a multicentre study. Aliment Pharmacol Ther. 2006;23(6):721-6.
9. Fischbach W, Dragosics B, Kolve-Goebeler ME, Ohmann C, Greiner A, Yang Q, et al. Primary gastric B-cell lymphoma: results of a prospective multicenter study. The German-Austrian Gastrointestinal Lymphoma Study Group. Gastroenterology. 2000;119(5):1191-202.
10. Lehours P, Menard A, Dupouy S, Bergey B, Richy F, Zerbib F, et al. Evaluation of the association of nine Helicobacter pylori virulence factors with strains involved in lowgrade gastric mucosa-associated lymphoid tissue lymphoma. Infect Immun. 2004;72 (2):880-8.
11. Hellmig S, Fischbach W, Goebeler-Kolve ME, Folsch UR, Hampe J, Schreiber S. A functional promotor polymorphism of TNF-alpha is associated with primary gastric B-cell lymphoma. Am J Gastroenterol. 2005;100(12):2644-9.
12. Rosenstiel P, Huse K, Till A, Hampe J, Hellmig S, Sina C, et al. A short isoform of NOD2/CARD15, NOD2-S, is an endogenous inhibitor of NOD2/receptor-interacting protein kinase 2-induced signaling pathways. Proc Natl Acad Sci USA. 2006;103(9):3280-5.
13. Celebiler Cavusoglu A, Kilic Y, Saydam S, Canda T, Baskan Z, Sevinc AI, et al. Predicting invasive phenotype with CDH1, CDH13, CD44, and TIMP3 gene expression in primary breast cancer. Cancer Sci. 2009;100(12):2341-5.
14. Guo C, Liu QG, Yang W, Zhang ZL, Yao YM. Relation among p130Cas, E-cadherin and beta-catenin expression, clinicopathologic significance and prognosis in human hepatocellular carcinoma. Hepatobiliary Pancreat Dis Int. 2008;7(5):490-6.
15. Mareel M, Bracke M, Van Roy F. Cancer metastasis: negative regulation by an invasion-suppressor complex. Cancer Detect Prev. 1995;19(5):451-64.
16. Pena C, Garcia JM, Silva J, Garcia V, Rodriguez R, Alonso I, et al. E-cadherin and vitamin D receptor regulation by SNAIL and ZEB1 in colon cancer: clinicopathological correlations. Hum Mol Genet. 2005;14 (22):3361-70.
17. Zhai B, Yan HX, Liu SQ, Chen L, Wu MC, Wang HY. Reduced expression of E-cadherin/ catenin complex in hepatocellular carcinomas. World J Gastroenterol. 2008;14 (37):5665-73.
18. Pinheiro H, Bordeira-Carrico R, Seixas S, Carvalho J, Senz J, Oliveira P, et al. Allele specific CDH1 down-regulation and hereditary diffuse gastric cancer. Hum Mol Genet. 2010;19(5):943-52.
19. Mayrbaeurl B, Keller G, Schauer W, Burgstaller S, Czompo M, Hoebling W, et al. Germline mutation of the E-cadherin gene in three sibling cases with advanced gastric cancer: clinical consequences for the other family members. Eur J Gastroenterol Hepatol. 2010;22(3):306-10.
20. Hebbard PC, Macmillan A, Huntsman D, Kaurah P, Carneiro F, Wen X, et al. Prophylactic total gastrectomy (PTG) for hereditary diffuse gastric cancer (HDGC): the Newfoundland experience with 23 patients. Ann Surg Oncol. 2009;16(7):1890-5.
21. Oliveira C, Senz J, Kaurah P, Pinheiro H, Sanges R, Haegert A, et al. Germline CDH1 deletions in hereditary diffuse gastric cancer families. Hum Mol Genet. 2009;18(9):1545-55.
22. Caron O, Schielke A, Svrcek M, Flejou JF, Garzon J, Olschwang S, et al. Usefulness of prophylactic gastrectomy in a novel large hereditary diffuse gastric cancer (HDGC) family. Am J Gastroenterol. 2008;103(8):2160-1.
23. Richards FM, McKee SA, Rajpar MH, Cole TR, Evans DG, Jankowski JA, et al. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet. 1999;8(4):607-10.
24. Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, et al. E-cadherin germline mutations in familial gastric cancer. Nature. 1998;392(6674):402-5.
25. Rocha AS, Soares P, Fonseca E, Cameselle-Teijeiro J, Oliveira MC, Sobrinho-Simoes M. E-cadherin loss rather than beta-catenin alterations is a common feature of poorly differentiated thyroid carcinomas. Histopathology. 2003;42(6):580-7.
26. Zhang X, Ma X, Zhu QG, Li LC, Chen Z, Ye ZQ. Association between a C/A single nucleotide polymorphism of the E-cadherin gene promoter and transitional cell carcinoma of the bladder. J Urol. 2003;170(4 Pt 1):1379-82.
27. Tsukino H, Kuroda Y, Nakao H, Imai H, Inatomi H, Kohshi K, et al. E-cadherin gene polymorphism and risk of urothelial cancer. Cancer Lett. 2003;195(1):53-8.
28. Guilford P, Humar B, Blair V. Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. Gastric Cancer. 2010;13(1):1-10.
29. Guilford P, Blair V, More H, Humar B. A short guide to hereditary diffuse gastric cancer. Hered Cancer Clin Pract. 2007;5 (4):183-94.
30. Brooks-Wilson AR, Kaurah P, Suriano G, Leach S, Senz J, Grehan N, et al. Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet. 2004;41(7):508-17.
31. Pedrazzani C, Corso G, Marrelli D, Roviello F. E-cadherin and hereditary diffuse gastric cancer. Surgery. 2007;142(5):645-57.
32. Kaurah P, MacMillan A, Boyd N, Senz J, De Luca A, Chun N, et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA. 2007;297(21):2360-72.
33. Sato Y, Ito M, Morise K, Saito Y, Kusugami K. Expression of adhesion molecules in primary B-cell gastric lymphoma and lymphoid follicles. Virchows Arch. 1996;429(6):377-82.
34. Jacob MC, Agrawal S, Chaperot L, Giroux C, Gressin R, Le Marc'Hadour F, et al. Quantification of cellular adhesion molecules on malignant B cells from non-Hodgkin's lymphoma. Leukemia. 1999;13 (9):1428-33.
35. Takubo T, Kanashima H, Terada Y, Shibata H, Aoyama Y, Nakamae H, et al. E-cadherin expression in lymph nodes of three patients with non-Hodgkin's lymphoma. Haematologia (Budap). 2002;32 (1):67-72.
36. Syrigos KN, Harrington KJ, Karayiannakis AJ, Baibas N, Katirtzoglou N, Roussou P. Circulating soluble E-cadherin levels are of prognostic significance in patients with multiple myeloma. Anticancer Res. 2004;24 (3b):2027-31.
37. Lewin KJ, Ranchod M, Dorfman RF. Lymphomas of the gastrointestinal tract: a study of 117 cases presenting with gastrointestinal disease. Cancer. 1978;42(2):693-707.
38. Carbone PP, Kaplan HS, Musshoff K, Smithers DW, Tubiana M, Radaszkiewicz T, et al. Report of the Committee on Hodgkin's Disease Staging Classification. Cancer Res. 1971;31(11):1860-1.
39. Musshoff K. [Clinical staging classification of non-Hodgkin's lymphomas (author's transl)]. Strahlentherapie. 1977;153(4):218-21.
40. Radaszkiewicz T, Dragosics B, Bauer P. Gastrointestinal malignant lymphomas of the mucosa-associated lymphoid tissue: factors relevant to prognosis. Gastroenterology. 1992;102(5):1628-38.
41. Franke A, Balschun T, Karlsen TH, Hedderich J, May S, Lu T, et al. Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat Genet. 2008;40(6):713-5.
42. Franke A, Balschun T, Karlsen TH, Sventoraityte J, Nikolaus S, Mayr G, et al. Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet. 2008;40(11):1319-23.
43. Franke A, Balschun T, Sina C, Ellinghaus D, Hasler R, Mayr G, et al. Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). Nat Genet. 2010;42(4):292-4.
44. Karlsen TH, Franke A, Melum E, Kaser A, Hov JR, Balschun T, et al. Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology. 2010;138(3):1102-11.
45. Hampe J, Wollstein A, Lu T, Frevel HJ, Will M, Manaster C, et al. An integrated system for high throughput TaqMan based SNP genotyping. Bioinformatics. 2001;17(7):654-5.
46. Teuber M, Koch WA, Manaster C, Wächter S, Hampe J, Schreiber S. Improving quality control and workflow management in high-throughput single-nucleotide polymorphism genotyping environments. 2005;10(1):43-7.
47. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21(2):263-5.
48. Kusters JG, van Vliet AH, Kuipers EJ. Pathogenesis of Helicobacter pylori infection. Clin Microbiol Rev. 2006;19(3):449-90.
49. Terres AM, Pajares JM, O'Toole D, Ahern S, Kelleher D. H pylori infection is associated with downregulation of E-cadherin, a molecule involved in epithelial cell adhesion and proliferation control. J Clin Pathol. 1998;51(5):410-2.
50. Conlin VS, Curtis SB, Zhao Y, Moore ED, Smith VC, Meloche RM, et al. Helicobacter pylori infection targets adherens junction regulatory proteins and results in increased rates of migration in human gastric epithelial cells. Infect Immun. 2004;72(9):5181-92.
51. Chan AO, Lam SK, Wong BC, Wong WM, Yuen MF, Yeung YH, et al. Promoter methylation of E-cadherin gene in gastric mucosa associated with Helicobacter pylori infection and in gastric cancer. Gut. 2003; 52(4):502-6.
52. Caldeira JR, Prando EC, Quevedo FC, Neto FA, Rainho CA, Rogatto SR. CDH1 promoter hypermethylation and E-cadherin protein expression in infiltrating breast cancer. BMC Cancer. 2006;6:48.
53. Lapyckyj L, Castillo LF, Matos ML, Gabrielli NM, Luthy IA, Vazquez-Levin MH. Expression analysis of epithelial cadherin and related proteins in IBH-6 and IBH-4 human breast cancer cell lines. J Cell Physiol. 2010;222(3):596-605.
54. Margineanu E, Cotrutz CE, Cotrutz C. Correlation between E-cadherin abnormal expressions in different types of cancer and the process of metastasis. Rev Med Chir Soc Med Nat Iasi. 2008;112(2):432-6.
55. Melki JR, Vincent PC, Brown RD, Clark SJ. Hypermethylation of E-cadherin in leukemia. Blood. 2000;95(10):3208-13.
56. Paul R, Ewing CM, Jarrard DF, Isaacs WB. The cadherin cell-cell adhesion pathway in prostate cancer progression. Br J Urol. 1997;79 (Suppl 1):37-43.
57. Armeanu S, Buhring HJ, Reuss-Borst M, Muller CA, Klein G. E-cadherin is functionally involved in the maturation of the erythroid lineage. J Cell Biol. 1995;131(1):243-9.
58. Siddiqui KR, Laffont S, Powrie F. E-cadherin marks a subset of inflammatory dendritic cells that promote T cell-mediated colitis. Immunity. 2010;32(4):557-67.
59. Durbin RM, Abecasis GR, Altshuler DL, Auton A, Brooks LD, Gibbs RA, et al. A map of human genome variation from population-scale sequencing. Nature. 2010;467 (7319):1061-73.
60. Chen CY, Shyu AB. AU-rich elements: characterization and importance in mRNA degradation. Trends Biochem Sci. 1995;20 (11):465-70.
61. Wilusz CJ, Wormington M, Peltz SW. The cap-to-tail guide to mRNA turnover. Nat Rev Mol Cell Biol. 2001;2(4):237-46.
62. Xu N, Chen CY, Shyu AB. Modulation of the fate of cytoplasmic mRNA by AU-rich elements: key sequence features controlling mRNA deadenylation and decay. Mol Cell Biol. 1997;17(8):4611-21.
63. Gherzi R, Lee KY, Briata P, Wegmuller D, Moroni C, Karin M, et al. A KH domain RNA binding protein, KSRP, promotes ARE-directed mRNA turnover by recruiting the degradation machinery. Mol Cell. 2004;14(5):571-83.
64. Keirsebilck A, Van Hoorde L, Gao Y, De Bruyne G, Bruyneel E, Vermassen P, et al. Mechanisms of downregulation of transfected E-cadherin cDNA during formation of invasive tumors in syngeneic mice. Invasion Metastasis. 1998;18(1):44-56.