Clinical significance of early-onset "sporadic" colorectal cancer with microsatelite instability

Diseases of the Colon and Rectum

Volumn 46, Issue 10, 2003, Pages 1305-1309

  Jass, Jeremy R ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN; BETA CATENIN; MICROSATELLITE DNA; PROTEIN MLH1;

CANCER RISK; CLINICAL FEATURE; COLORECTAL CANCER; DNA METHYLATION; EDITORIAL; ENVIRONMENTAL FACTOR; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GERM LINE; HUMAN; LYMPHOCYTIC INFILTRATION; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; ONSET AGE; PROMOTER REGION; RISK FACTOR;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; BASE PAIR MISMATCH; CARRIER PROTEINS; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA METHYLATION; DNA REPAIR; DNA, NEOPLASM; GERM-LINE MUTATION; HUMANS; MICROSATELLITE REPEATS; MIDDLE AGED; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PROMOTER REGIONS (GENETICS);

EID: 0142106934     PISSN: 00123706     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10350-004-6738-3     Document Type: Editorial

References (41)

1. 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;363:558-61.
2. 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;58:5248-57.
3. Lynch HT, Smyrk T, Lynch JF. Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch syndrome). Int J Cancer 1996;69:38-43.
4. Peel DJ, Ziogas A, Fox EA, et al. Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases. J Natl Cancer Inst 2000;92:1517-22.
5. Samowitz WS, Curtin K, Lin HH, et al. The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer. Gastroenterology 2001;121:830-8.
6. Kane MF, Loda M, Gaida GM, et al. 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;57:808-11.
7. Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002;20:1043-8.
8. Vasen HFA, Mecklin J-P, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424-5.
9. Järvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000;118:829-34.
10. Guillem JG, Puig-La Calle J Jr, Cellini C, et al. Varying features of early age-of-onset "sporadic" and hereditary nonpolyposis colorectal cancer patients. Dis Colon Rectum 1999;42:36-42.
11. Salovaara R, Loukola A, Kristo P, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000;18:2193-200.
12. Young J, Simms LA, Biden KG, et al. Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis. Am J Pathol 2001;159:2107-16.
13. Dunlop MG, Farrington SM, Carothers AD, et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 1997;6:105-10.
14. Fujita S, Moriya Y, Sugihara K, Akasu T, Ushio K. Prognosis of hereditary colorectal cancer (HNPCC) and the role of Japanese criteria for HNPCC. Jpn J Clin Oncol 1996;26:351-5.
15. Sheng J, Shen Z, Fan C. Clinical phenotypes of hereditary nonpolyposis colorectal cancer in Chinese population [in Chinese]. Zhongua Yi Xue Za Zhi 2002;82:1371-4.
16. Ramesar RS, Madden MV, Felix R, et al. Molecular genetics improves the management of hereditary non-polyposis colorectal cancer. S Afr Med J 2000;90:709-14.
17. Kakar S, Burgart LJ, Thibodeau SN, et al. Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing age. Cancer 2003;2002:1421-7.
18. Suh JH, Lim S-D, Kim JC, Hong SH, Kang GH. Comparison of clinicopathologic characteristics and genetic alterations between microsatellite instability-positive and microsatellite instability-negative sporadic colorectal carcinomas in patients younger than 40 years old. Dis Colon Rectum 2002;45:219-28.
19. Kim HC, Kim CN, Yu SA, Kim JC. Methylation of the hMLH1 and hMSH2 promoter in early-onset sporadic colorectal carcinomas with microsatellite instability. Int J Colorectal Dis 2003;18:196-202.
20. Gryfe R, Kim H, Hsieh ETK, et al. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. N Engl J Med 2000;342:69-77.
21. Soliman AS, Bondy ML, El-Badawy SA, et al. Contrasting molecular pathology of colorectal carcinoma in Egyptian and Western patients. Br J Cancer 2001;85:1037-46.
22. Kim H, Jen J, Vogelstein B, Hamilton SR. Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences. Am J Pathol 1994;145:148-56.
23. Lukish JR, Muro K, DeNobile J, et al. Prognostic significance of DNA replication errors in young patients with colorectal cancer. Ann Surg 1998;227:51-6.
24. Liu B, Farrington SM, Petersen GM, et al. Genetic instability occurs in the majority of young patients with colorectal cancer. Nature Med 1995;1:348-52.
25. Kuismanen SA, Holmberg MT, Salovaara R, De La Chapelle A, Peltomäki P. Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol 2000;156:1773-9.
26. Malkhosyan SR, Yamamoto H, Piao Z, Perucho M. Late onset and high incidence of colon cancer of the mutator phenotype with hypermethylated hMLH1 gene in women. Gastroenterology 2000;119:598.
27. Nakagawa H, Nuovo GJ, Zervos EE, et al. Age-related hypermethylation of the 5′ region of MLH1 in normal colonic mucosa is associated with microsatellite-unstable colorectal cancer development. Cancer Res 2001;61:6991-5.
28. Miyakura Y, Sugano K, Konishi F, et al. Extensive methylation of hMLH1 promoter region predominates in proximal colon cancer with microsatellite instability. Gastroenterology 2001;121:1300-9.
29. Samowitz WS, Curtin K, Ma K-N, et al. Microsatellite instability in sporadic colon cancer is associated with an improved prognosis at the population level. Cancer Epidemiol Biomarkers Prev 2001;10:917-23.
30. Jass JR, Walsh MD, Barker M, Simms LA, Young J, Leggett BA. Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability. Eur J Cancer 2002;38:858-66.
31. Jass JR, Young J, Leggett BA. Evolution of colorectal cancer: change of pace and change of direction. J Gastroenterol Hepatol 2002;17:17-26.
32. Yamamoto H, Min Y, Itoh F, et al. Differential involvement of the hypermethylator phenotype in hereditary and sporadic colorectal cancers with high-frequency microsatellite instability. Genes Chromosomes Cancer 2002;33:322-5.
33. Mirabelli-Primdahl L, Gryfe R, Kim H, et al. Beta-catenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway. Cancer Res 1999;59:3346-51.
34. Salahshor S, Kressner U, Påhlman L, Glimelius B, Lindmark G, Lindblom A. Colorectal cancer with and without microsatellite instability involves different genes. Genes Chromosomes Cancer 1999;26:247-52.
35. Miyaki M, Iijima T, Kimura J, et al. Frequent mutation of β-catenin and APC genes in primary colorectal tumors from patients with hereditary nonpolyposis colorectal cancer. Cancer Res 1999;59:4506-9.
36. Senba S, Konishi F, Okamoto T, et al. Clinicopathologic and genetic features of nonfamilial colorectal carcinomas with DNA replication errors. Cancer 1998;82:279-85.
37. Chan AO-O, Issa J-PJ, Morris JS, Hamilton SR, Rashid A. Concordant CpG island methylation in hyperplastic polyposis. Am J Pathol 2002;160:529-36.
38. Jeevaratnam P, Cottier DS, Browett PJ, Van de Water NS, Pokos V, Jass JR. Familial giant hyperplastic polyposis predisposing to colorectal cancer: A new hereditary bowel cancer syndrome. J Pathol 1996;179:20-5.
39. Rashid A, Houlihan S, Booker S, Petersen GM, Giardiello FM, Hamilton SR. Phenotypic and molecular characteristics of hyperplastic polyposis. Gastroenterology 2000;119:323-32.
40. Frazier ML, Xi L, Zong J, et al. Association of the CpG island methylator phenotype with family history of cancer in patients with colorectal cancer. Cancer Res 2003;63:4805-8.
41. Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. A National Cancer Institute Workshop on Hereditary Non-polyposis Colorectal Cancer Syndrome: Meeting Highlights and Bethesda Guidelines. J Natl Cancer Inst 1997;89:1758-62.