Microsatellite instability caused by hMLH1 promoter methylation increases with tumor progression in right-sided sporadic colorectal cancer

Oncology

Volumn 69, Issue 4, 2005, Pages 354-362

  Noda, Hiroshi ^a,b   Kato, Yo ^a   Yoshikawa, Hirohide ^a   Arai, Masami ^a   Togashi, Kazutomo ^b   Nagai, Hideo ^b   Konishi, Fumio ^b   Miki, Yoshio ^a,c  

^a CANCER CHEMOTHERAPY CENTER   (Japan)

^b JICHI MEDICAL UNIVERSITY   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

hMLH1; MSI; Sporadic colorectal cancer

Indexed keywords

PROTEIN MLH1; TUMOR MARKER;

ADULT; ADVANCED CANCER; AGED; ARTICLE; CANCER INVASION; COLORECTAL CANCER; CONTROLLED STUDY; FEMALE; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN METHYLATION; STATISTICAL SIGNIFICANCE; TUMOR GROWTH;

AGED; CARRIER PROTEINS; COLORECTAL NEOPLASMS; DISEASE PROGRESSION; FEMALE; HUMANS; MALE; METHYLATION; MICROSATELLITE REPEATS; MIDDLE AGED; NEOPLASM INVASIVENESS; NEOPLASM STAGING; NUCLEAR PROTEINS; PROMOTER REGIONS (GENETICS);

EID: 28644431888     PISSN: 00302414     EISSN: None     Source Type: Journal    
DOI: 10.1159/000089768     Document Type: Article

References (36)

1. Papadopoulous N, Nicolaides NC, Wei YS, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Hamilton SR, Petersen GM, Watson P, Lynch HT, Peltomaki P, Mecklin JP, de la Chapelle A, Kinzler KW, Vogelstein B: Mutation of a MutL homolog in hereditary colon cancer. Science 1994;263:1625-1629.
2. Fishel R, Lescoe MK, Rao MRS, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R: The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colorectal cancer. Cell 1993;75:1215-1225.
3. Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, Igari T, Koike M, Chiba M, Mori T: Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 1997; 17:271-272.
4. Marcowitz S, Wang J, Myeroff L, Parsons R, Sun L, Lutterbaugh J, Fan RS, Zborowska E, Kinzler KW, Vogelstein B, Brattain M, Willson JKV: Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science 1995;268:1336-1338.
5. Souza RF, Appel R, Yin J, Wang S, Smolinski KN, Abraham LM, Zou TT, Shi YO, Lei J, Cottrell J, Cymes K, Biden K, Simms L, Leggett B, Lynch PM, Frazier M, Powell SM, Harpaz N, Sugimura H, Young J, Melttzer SJ: Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumors. Nat Genet 1996;14:255-257.
6. Rampino N, Yamamoto H, Ionov Y, Li Y, Sawai H, Reed JC, Perucho M: Somatic frameshift mutations in the BAX gene in colon cancer of the microsatellite mutator phenotype. Science 1997;275:967-969.
7. Wicking C, Simms LA, Evans T, Walsh M, Chawengsaksophak K, Beck F, Chenevix-Trench G, Young J, Jass J, Leggett B, Wainwright B: CDX2, a human homologue of Drosophilia caudal, is mutated in both alleles in a replication error positive colorectal cancer. Oncogene 1998;17:657-659.
8. Fujiwara T, Stolker JM, Watanabe T, Rashid A, Longo P, Eshieman JR, Booker S, Lynch HT, Jass JR, Green JS, Kim H, Jen J, VogelStein B, Hamilton SR: Accumulated clonal genetic alterations in familial and sporadic colorectal carcinomas with widespread instability in microsatellite sequences. Am J Pathol 1998;153:1063-1078.
9. Schwartz S, Yamamoto H, Navarro M, Maestro M, Reventos J, Perucho M: Frameshift mutations at mononucleotide repeats in caspase-5 and other target genes in endometrial and gastrointestinal cancer of the microsatellite mutator phenotype. Cancer Res 1999;59: 2995-3002.
10. Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M: Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993;363:558-561.
11. Thibodeau SN, Bren G, Schaid D: Microsatellite instability in cancer of the proximal colon. Science 1993;260:816-819.
12. Konishi M, Kikuchi-Yanoshita R, Tanaka K, Muraoka M, Onda A, Okumura Y, Kishi N, Iwama T, Mori T, Koike M, Ushio K, Chiba M, Nomizu S, Konishi F, Utsunomiya J, Miyaki M: Molecular nature of colon tumor in hereditary nonpolyposis colorectal cancer, familial polyposis, and sporadic colon cancer. Gastroenterology 1996;111:307-317.
13. Akiyama Y, Iwanaga R, Saitoh K, Shiba K, Ushio K, Ikeda E, Iwama T, Nomizu T, Yuasa Y: Transforming growth factor B type II receptor gene mutations in adenomas from hereditary nonpolyposis colorectal cancer. Gastroenterology 1997;112:33-39.
14. Jacoby RF, Marshall DJ, Kailas S, Schlack S, Harms B, Love R: Genetic instability associated with adenoma to carcinoma progression in hereditary nonpolyposis colon cancer. Gastroenterology 1995;109:73-82.
15. Aaltonen LA, Peltomaki P, Mecklin JP, Jarvinen H, Pukkala E, Petlomaki P, de la Chapelle A: Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res 1994;54:1645-1648.
16. Masubuchi S, Konishi F, Togashi K, Okamoto T, Senba S, Shitoh K, Kashiagi H, Kanazawa K, Tsukamoto T: The significance of microsatellite instability in predicting the development of metachronous multiple colorectal carcinomas in patients with nonfamilial colorectal carcinoma. Cancer 1999;85:1917-1924.
17. Gonzalgo ML, Jones PA: Mutagenic and epigenetic effects of DNA methylation. Mutat Res 1997;386:107-118.
18. Kane MF, Loda M, Gaida GM, Lipman J, Mishra R, Goldman H, Jessup JM, Kolodner R: Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res 1997;57:808-811.
19. Herman JG, Umar A, Polyak K, Graff JR, Ahuja N, Issa JPJ, Markowitz S, Willson JKV, Hamilton SR, Kinzler KW, Kane MF, Kolodner RD, Vogelstein B, Kunkel TA, Baylin SB: Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci USA 1998;95:6870-6875.
20. Cunningham JM, Christensen ER, Tester DJ, Kim CY, Roche PC, Burgart LJ, Thibodeau SN: Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res 1998;58:3445-3460.
21. Kuismanen SA, Holmberg MT, Salovaara R, Schweizer P, Aatonen LA, de la Chapelle A, Nystrom-Lahth M, Peltomaki P: Genetic and epigenetic phenotypes distinguish microsatelhte-stable and -unstable colorectal cancers. Proc Natl Acad Sci USA 1999;96:12661-12666.
22. Kuismanen SA, Holmberg MT, Salovaara R, de la Chapelle A, Peltomaki P: Genetic and epigenetic modification of MLH accounts for major share of microsatellite unstable colorectal cancers. Am J Pathol 2000;156:1773-1779.
23. Miyakura Y, Sugano K, Konishi F, Ichikawa A, Maekawa M, Shitoh K, Igarashi S, Kotake K, Koyama Y, Nagai H: Extensive methylation of hMLH1 promoter region predominates in proximal colon cancer with microsatellite instability. Gastroenterology 2001;121;1300-1309.
24. Miyakura Y, Sugano K, Konishi F, Fukayama N, Igarashi S, Kotake K, Matsui T, Koyama Y, Maekawa M, Nagai H: Methylation profile of the MLH1 promoter region and their relationship to colorectal carcinogenesis. Gene Chromosome Cancer 2003;36:17-25.
25. Furukawa T, Konishi F, Masubuchi S, Shitoh K, Nagai H, Tsukamoto T: Densely methylated MLH1 promoter correlates with decreased mRNA expression in sporadic colorectal cancers. Gene Chromosome Cancer 2002;35:1-10.
26. Rubio CA, Kumagai J, Kanamori T, Yanagisawa A, Nakamura K, Kato Y: Flat adenomas and flat adenocarcinomas of the colorectal mucosa in Japanese and Swedish patients: comparative histologic study. Dis Colon Rectum 1995;38:1075-1079.
27. Schlemper RJ, Itabashi M, Kato Y, Lewin KL, Riddell RH, Shimoda T, Sipponen P, Stolte M, Watanabe H: Differences in the diagnostic criteria used by Japanese and Western pathologists to diagnose colorectal carcinoma. Cancer 1998;82:60-69.
28. Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB: Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 1996;93:821-826.
29. Norrie MW, Hawkins NJ, Todd AV, Meagher AP, O'Connor TW, Ward RL: The role of hMLH1 methylation in the development of synchronous sporadic colorectal carcinomas. Dis Colon Rectum 2002;45:674-680.
30. Boland CR, Thibodeau SN, Mamilton SR, Sidransky D, Eshleman JR, Burt RW, Meltzer SJ, Rodrigues-Bigas MA, Fodde R, Ranzani GN, Srivastave S: A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248-5257.
31. Toyota M, Ahuja N, Ohe-Toyota M, Herman JG, Baylin SB, Issa JP: CpG island methylator phenotype in colorectal cancer. Proc Natl Acad Sci USA 1999;96:8681-8686.
32. Toyota M, Ohe-Toyota M, Ahuja N, Issa JP: Distinct genetic profiles in colorectal tumors with or without the CpG island methylator phenotype. Proc Natl Acad Sci USA 2000;97: 710-715.
33. Chapusot C, Martin L, Bouvier AM, Bonithon-Kopp C, Ecarnot-Laubriet A, Rageot D, Ponnelle T, Puig PL, Faivre J, Piard F: Microsatellite instability and intratumoral heterogeneity in 100 right-sided sporadic colon carcinomas. Br J Cancer 2002;87:400-404.
34. Rashid A, Zahurak M, Goodma SN, Hamilton SR: Genetic epidemiology of mutated K-ras proto-oncogene, altered tumor suppressor genes, and microsatellite instability in colorectal adenomas. Gut 1999;44:826-833.
35. Watanabe T, Muto T, Sawada T, Miyaki M: Flat adenoma as a precursor of colorectal carcinomas in hereditary nonpolyposis colorectal carcinoma. Cancer 1996;77:627-634.
36. Rijcken FEM, Hollema H, Kleibeuker JH: Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation. Gut 2002;50:382-386.