Defective mismatch repair in the pathogenesis of low-grade appendiceal mucinous neoplasms and adenocarcinomas

Modern Pathology

Volumn 17, Issue 12, 2004, Pages 1447-1454

  Misdraji, Joseph ^a   Burgart, Lawrence J ^b   Lauwers, Gregory Y ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b MAYO CLINIC   (United States)

Author keywords

Appendiceal neoplasm; Microsatellite instability; Mismatch repair; Mucinous adenocarcinoma; Mucinous cystadenoma

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; MUCIN; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ADENOCARCINOMA; ADULT; AGED; APPENDIX CARCINOMA; ARTICLE; CANCER GRADING; CANCER INVASION; CLINICAL ARTICLE; COLON CARCINOGENESIS; FEMALE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MISMATCH REPAIR; MUCINOUS CARCINOMA; MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SENSITIVITY AND SPECIFICITY; TUMOR ASSOCIATED LEUKOCYTE;

ADENOCARCINOMA; ADENOCARCINOMA, MUCINOUS; ADENOSINE TRIPHOSPHATASES; APPENDICEAL NEOPLASMS; BASE PAIR MISMATCH; CARRIER PROTEINS; DNA REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; HUMANS; IMMUNOHISTOCHEMISTRY; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PROTO-ONCOGENE PROTEINS;

EID: 10344248149     PISSN: 08933952     EISSN: None     Source Type: Journal    
DOI: 10.1038/modpathol.3800212     Document Type: Article

References (45)

1. Jass JR, Iino H, Ruszkiewicz A, et al. Neoplastic progression occurs through mutator pathways in hyperplastic polyposis of the colorectum. Gut 2000; 47:43-49.
2. Iino H, Jass JR, Simms LA, et al. DNA microsatellite instability in hyperplastic polyps, serrated adenomas, and mixed polyps: a mild mutator pathway for colorectal cancer? J Clin Pathol 1999;52:5-9.
3. Hawkins NJ, Bariol C, Ward RL. The serrated neoplasia pathway. Pathology (Phila) 2002;34:548-555.
4. Redston M. Carcinogenesis in the GI tract: from morphology to genetics and back again. Mod Pathol 2001;14:236-245.
5. 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.
6. Arai T, Esaki Y, Sawabe M, et al. Hypermethylation of the hMHL1 promoter with absent hMLH1 expression in medullary-type poorly differentiated colorectal adenocarcinoma in the elderly. Mod Pathol 2004; 17:172-179.
7. Cunningham JM, Kim CY, Christensen ER, et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet 2001;69:780-790.
8. Wright CL, Stewart ID. Histopathology and mismatch repair status of 458 consecutive colorectal carcinomas. Am J Surg Pathol 2003;27:1391-1406.
9. Gafa R, Maestri I, Matteuzzi M, et al. Sporadic colorectal adenocarcinomas with high-frequency microsatellite instability. Cancer 2000;89:2025-2037.
10. Chaves P, Cruz C, Lage P, et al. Immunohistochemical detection of mismatch repair gene proteins as a useful tool for the identification of colorectal carcinoma with the mutator phenotype. J Pathol 2000;191: 355-360.
11. Ward R, Meagher A, Tomlinson I, et al. Microsatellite instability and the clinicopathological features of sporadic colorectal cancer. Gut 2001;48:821-829.
12. Kim H, Jen J, Vogelstein B, et al. Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences. Am J Pathol 1994;145:148-156.
13. Shia J, Ellis NA, Paty PB, et al. Value of Histopathology in predicting microsatellite instability in hereditary nonpolyposis colorectal cancer and sporadic colorectal cancer. Am J Surg Pathol 2003;27:1407-1417.
14. 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;38:858-866.
15. Messerini L, Vitelli F, De Vitis LR, et al. Microsatellite instability in sporadic mucinous colorectal carcinomas: relationship to clinico-pathological variables. J Pathol 1997;182:380-384.
16. Jass JR, Do KA, Simms LA, et al. Morphology of sporadic colorectal cancer with DNA replication errors. Gut 1998;42:673-679.
17. Kawabata Y, Tomita N, Monden T, et al. Molecular characteristics of poorly differentiated adenocarcinoma and signet-ring-cell carcinoma of colorectum. Int J Cancer 1999;84:33-38.
18. Luceri C, De Filippo C, Guglielmi F, et al. Microsatellite instability in a population of sporadic colorectal cancers: correlation between genetic and pathological profiles. Digest & Liver Dis 2002;34:553-559.
19. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1993;260:816-819.
20. Raedle J, Trojan J, Brieger A, et al. Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer. Ann Intern Med 2001;135:566-576.
21. Jass JR, Young J, Leggett BA. Biological significance of microsatellite instability-low (MSI-L) status in colorectal tumors. Am J Pathol 2001;158:779-781.
22. Misdraji J, Yantiss RK, Graeme-Cook FM, et al. Appendiceal mucinous neoplasms: a clinicopathologic analysis of 107 cases. Am J Surg Pathol 2003;27: 1089-1103.
23. Appelman HD. Epithelial neoplasia of the appendix. In: Norris HT (ed). Pathology of the Colon, Small Intestine, and Anus. Churchill Livingstone: New York, 1991, pp 263-303.
24. Kuismanen SA, Holmberg MT, Salovaara R, et al. Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol 2000;156:1773-1779.
25. Thibodeau SN, French AJ, Cunningham JM, et al. Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLHl. Cancer Res 1998;58:1713-1718.
26. Stone JG, Robertson D, Houlston RS. Immunohistochemistry for MSH2 and MHL1: a method for identifying mismatch repair deficient colorectal cancer. J Clin Pathol 2001;54:484-487.
27. Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002; 20:1043-1048.
28. 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;23:1248-1255.
29. Lanza G, Gafa R, Maestri I, et al. Immunohistochemical pattern of MLH1/MSH2 expression is related to clinical and pathological features in colorectal adenocarcinomas with microsatellite instability. Mod Pathol 2002;15:741-749.
30. Plaschke J, Kruger S, Pistorius S, et al. Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation. Int J Cancer 2002;97:643-648.
31. Wahlberg SS, Schmeits J, Thomas G, et al. Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. Cancer Res 2002;62:3485-3492.
32. Carr NJ, McCarthy WF, Sobin LH. Epithelial noncarcinoid tumors and tumor-like lesions of the appendix. A clinicopathologic study of 184; patients with a multivariate analysis of prognostic factors. Cancer 1995; 75:757-766.
33. Carr NJ, Sobin LH. Unusual tumors of the appendix and pseudomyxoma peritonei. Semin Diagn Pathol 1996;13:314-325.
34. Higa E, Rosai J, Pizzimbono CA, et al. Mucosal hyperplasia, mucinous cystadenoma, and mucinous cystadenocarcinoma of the appendix. A re-evaluation of appendiceal 'mucocele'. Cancer 1973;32:1525-1541.
35. Ronnett BM, Kurman RJ, Shmookler BM, et al. The morphologic spectrum of ovarian metastases of appendiceal adenocarcinomas: a clinicopathologic and immunohistochemical analysis of tumors often misinterpreted as primary ovarian tumors or metastatic tumors from other gastrointestinal sites. Am J Surg Pathol 1997;21:1144-1155.
36. Risinger JI, Umar A, Barrett JC, et al. A hPMS2 mutant cell line is defective in strand-specific mismatch repair. J Biol Chem 1995;270:18183-18186.
37. Nicolaides NC, Papadopoulos N, Liu B, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994;371:75-80.
38. Acharya S, Wilson T, Gradia S, et al. hMSH2 forms specific mispair-binding complexes with hMSHS and hMSH6. Proc Natl Acad Sci USA 1996;93: 13629-13634.
39. Chang DK, Ricciardiello L, Goel A, et al. Steady-state regulation of the human DNA mismatch repair system. J Biol Chem 2000;275:18424-18431.
40. Kabbani W, Houlihan PS, Luthra R, et al. Mucinous and nonmucinous appendiceal adenocarcinomas: different clinicopathological features but similar genetic alterations. Mod Pathol 2002;15:599-605.
41. 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;42:722-726.
42. 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;93:1307-1313.
43. Jass JR. Hyperplastic polyps of the colorectum-innocent or guilty? Dis Colon Rectum 2001;44:163-166.
44. Jass JR, Young J, Leggett BA. Hyperplastic polyps and DNA microsatellite unstable cancers of the colorectum. Histopathology 2000;37:295-301.
45. Szych C, Staebler A, Connolly DC, et al. Molecular genetic evidence supporting the clonality and appendiceal origin of Pseudomyxoma peritonei in women. Am J Pathol 1999;154:1849-1855.