HNPCC and sporadic MSI-H colorectal cancer: A review of the morphological similarities and differences

Familial Cancer

Volumn 3, Issue 2, 2004, Pages 93-100

  Jass, Jeremy R ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

Colorectal cancer; Diagnosis; HNPCC; MSI H; Pathology; Tumor infiltrating lymphocytes

Indexed keywords

APC PROTEIN; B RAF KINASE; BETA CATENIN; DNA; K RAS PROTEIN; MUCIN; MICROSATELLITE DNA;

ADENOMA; BASOPHILIA; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CELL DIFFERENTIATION; CELL STRUCTURE; COLORECTAL CANCER; CYTOLOGY; CYTOPLASM; CYTOTOXIC T LYMPHOCYTE; DISEASE MARKER; DNA METHYLATION; EOSINOPHILIA; FAMILIAL CANCER; FAMILY HISTORY; GENE CLUSTER; GENE MUTATION; HEREDITY; LYMPHOCYTIC INFILTRATION; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; NUCLEOLUS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SECRETION; REVIEW; ADULT; AGED; ANAMNESIS; COLORECTAL TUMOR; GENETIC PREDISPOSITION; GENETICS; HUMAN; MIDDLE AGED; PATHOLOGY; PEDIGREE;

ADULT; AGE OF ONSET; AGED; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA METHYLATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MEDICAL HISTORY TAKING; MICROSATELLITE REPEATS; MIDDLE AGED; PEDIGREE; PHENOTYPE;

EID: 16544364390     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:FAME.0000039849.86008.b7     Document Type: Review

References (55)

1. 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.
2. Jass JR, Cottier DS, Jeevaratnam P et al. Diagnostic use of microsatellite instability in hereditary non-polyposis colorectal cancer. Lancet 1995; 346: 1200-1.
3. Vasen HF, Watson P, Mecklin J-P, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 1999; 116: 1453-6.
4. 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(5): 808-11.
5. 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.
6. 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.
7. 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.
8. Jeevaratnam P, Cottier DS, Browett PJ et al. Familial giant hyperplastic polyposis predisposing to colorectal cancer: A new hereditary bowel cancer syndrome. J Pathol 1996; 179: 20-5.
9. Rashid A, Houlihan S, Booker S et al. Phenotypic and molecular characteristics of hyperplastic polyposis. Gastroenterology 2000; 119: 323-32.
10. Chan AO-O, Issa J-PJ, Morris JS et al. Concordant CpG island methylation in hyperplastic polyposis. Am J Pathol 2002; 160 (2): 529-36.
11. Jass JR, lino H, Ruszkiewicz A et al. Neoplastic progression occurs through mutator pathways in hyperplastic polyposis of the colorectum. Gut 2000; 47: 43-9.
12. Jass JR, Young J, Leggett BA. Hyperplastic polyps and DNA microsatellite unstable cancers of the colorectum. Histopathology 2000; 37: 295-301.
13. Hawkins NJ, Ward RL. Sporadic colorectal cancers with microsatellite instability and their possible origin in hyperplastic polyps and serrated adenomas. J Natl Cancer Inst 2001; 93: 1307-13.
14. Jass JR, Cottier DS, Pokos V et al. Mixed epithelial polyps in association with hereditary non-polyposis colorectal cancer providing an alternative pathway of cancer histogenesis. Pathology 1997; 29: 28-33.
15. Gazzoli I, Loda M, Garber J et al. A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the hMLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor. Cancer Res 2002; 62: 3925-8.
16. 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 Colorect Dis 2003; 18: 196-202.
17. Suh JH, Lim S-D, Kim J-C et al. 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.
18. Jass JR, Smyrk TC, Stewart SM et al. Pathology of hereditary non-polyposis colorectal cancer. Anticancer Res 1994; 14: 1631-4.
19. Rüschoff J, Dietmaier W, Lüttges J et al. Poorly differentiated colonic adenocarcinoma, medullary type: clinical, phenotypic, and molecular characteristics. Am J Pathol 1997; 150: 1815-25.
20. Gibbs NM. Undifferentiated carcinoma of the large intestine. Histopathology 1977; 1: 77-84.
21. De Petris G, Lev R, Quirk DM et al. Lymphoepithelioma-like carcinoma of the colon in a patient with hereditary nonpolyposis colorectal cancer. Arch Pathol Lab Med 1999; 123: 720-4.
22. Jass JR, Constable L, Sutherland R et al. Adenocarcinoma of colon differentiating as dome epithelium of gut-associated lymphoid tissue. Histopathology 2000; 36: 116-20.
23. Ionov Y, Peinado MA, Malkhosyan S et al. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993; 363: 558-61.
24. Alexander J, Watanabe T, Tsung-Teh W et al. Histopathological identification of colon cancer with microsatellite instability. Am J Pathol 2001; 158: 527-35.
25. Graham DM, Appelman HD. Crohn's-like lymphoid reaction and colorectal carcinoma: a potential histologic prognosticator. Mod Pathol 1990; 3: 332-5.
26. Krishna M, Burgart LJ, French AJ et al. Histopathologic features associated with microsatellite instability in colorectal carcinomas. Gastroenterology 1996; 110: A546.
27. Jass JR, Do K-A, Simms LA et al. Morphology of sporadic colorectal cancer with DNA replication errors. Gut 1998; 42: 673-9.
28. Michael-Robinson JM, Biemer-Hüttman A-E, Purdie DM et al. Tumour infiltrating lymphocytes and apoptosis are independent features in colorectal cancer stratified according to microsatellite instability status. Gut 2001; 48: 360-6.
29. Ward R, Meagher A, Tomlinson I et al. Microsatellite instability and the clinicopathological features of sporadic colorectal cancer. Gut 2001; 48: 821-9.
30. Smyrk TC, Watson P, Kaul K, Lynch HT. Tumor-infiltrating lymphocytes are a marker for microsatellite instability in colorectal cancer. Cancer 2001; 91: 2417-22.
31. Greenson JK, Bonner JD, Ben-Yzhak O et al. Phenotype of microsatellite unstable colorectal carcinomas. Am J Surg Pathol 2003; 27: 563-70.
32. Jass JR, Barker M, Fraser L et al. APC mutation and tumor budding in colorectal cancer. J Clin Pathol 2003; 56: 69-73.
33. Jass JR, Walsh MD, Barker M et al. Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability. Eur J Cancer 2002; 38: 858-66.
34. 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 (6): 2107-16.
35. Wang L, Cunningham JM, Winters JL et al. BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. Cancer Res 2003; 63: 5209-12.
36. Jass JR, Stewart SM. Evolution of hereditary non-polyposis colorectal cancer. Gut 1992; 33: 783-6.
37. Rijcken FE, Hollema H, Kleibeuker JH. Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation. Gut 2002; 50 (3): 382-6.
38. Jass JR, Whitehall VLJ, Young J, Leggett BA. Emerging concepts in colorectal neoplasia. Gastroenterology 2002; 123: 862-76.
39. Chan TL, Zhao W, Cancer Genome Project et al. BRAF and KRAS mutations in colorectal hyperplastic polyps and serrated adenomas. Cancer Res 2003; 63: 4878-81.
40. Iino H, Simms LA, Young J et al. DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer. Gut 2000; 47: 37-42.
41. 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.
42. Gafa R, Maestri I, Matteuzzi M et al. Sporadic colorectal adenocarcinomas with high-frequency microsatellite instability. Cancer 2000; 89: 2025-37.
43. Shashidharan M, Smyrk T, Lin KM et al. Histologic comparison of hereditary nonpolyposis colorectal cancer associated with MSH2 and MLH1 and colorectal cancer from the general population. Dis Colon Rectum 1999; 42: 722-6.
44. Jass JR, Stewart SM, Stewart J, Lane MR. Hereditary non-polyposis colorectal cancer: morphologies, genes and mutations. Mutat Res 1994; 290: 125-33.
45. Biemer-Hüttmann A-E, Walsh MD, McGuckin MA et al. Immunohistochemical staining patterns of MUC1, MUC2, MUC4, and MUC5AC mucins in hyperplastic polyps, serrated adenomas, and traditional adenomas of the colorectum. J Histochem Cytochem 1999; 47: 1039-47.
46. Whitehall VLJ, Wynter CVA, Walsh MD et al. Morphological and molecular heterogeneity within non-microsatellite instability-high colorectal cancer. Cancer Res 2002; 62: 6011-4.
47. Jass JR, Cottier DS, Jeevaratnam P et al. Pathology of hereditary non-polyposis colorectal cancer with clinical and molecular genetic correlations. In Baba S (ed): New Strategies for Treatment of Hereditary Colorectal Cancer. Tokyo, Japan: Churchill Livingstone, 1996.
48. Piyathilake CJ, Johanning GL, Frost AR et al. Immunohistochemical evaluation of global DNA methylation: comparison with in vitro radiolabeled methyl incorporation assay. Biotech Histochem 2000; 75: 251-8.
49. Lynch HT, Smyrk TC, Watson P et al. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology 1993; 104: 1535-49.
50. Farrington SM, Lin-Goerke J, Ling J et al. Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. Am J Hum Genet 1998; 63: 749-59.
51. 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.
52. Marcus VA, Madlensky L, Gryfe R et al. Immunohistochemistry for hMLH1 and hMSH2: a practical test for DNA mismatch repair-deficient tumors. Am J Surg Pathol 1999; 23: 1248-55.
53. Paraf F, Gilquin M, Longy M et al. MLH1 and MSH2 protein immunohistochemistry is useful for detection of hereditary nonpolyposis colorectal cancer in young patients. Histopathology 2001; 39 (3): 250-8.
54. Lindor NM, Burgart LJ, Leontovich O et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002; 20 (4): 1043-8.
55. Thibodeau SN, French AJ, Cunningham JM et al. Microsatellite instability in colorectal cancer: different mutator phenotypes and the principle involvement of hMLH1. Cancer Res 1998; 58: 1713-18.