Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer

Journal of Molecular Diagnostics

Volumn 9, Issue 4, 2007, Pages 472-478

  Watson, Natasha ^a   Grieu, Fabienne ^a   Morris, Melinda ^a   Harvey, Jennet ^a   Stewart, Colin ^b   Schofield, Lyn ^a,c   Goldblatt, Jack ^a,c   Iacopetta, Barry ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b PATHWEST LABORATORY MEDICINE   (Australia)

^c Genetic Services of Western Australia   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

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

ADULT; ARTICLE; AUSTRALIA; COLORECTAL CANCER; CONTROLLED STUDY; CORRELATION ANALYSIS; GENE MUTATION; GERM LINE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MASS SCREENING; MICROSATELLITE INSTABILITY; NUCLEOTIDE REPEAT; PROTEIN EXPRESSION;

EID: 34548765471     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2007.060162     Document Type: Article

References (36)

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, 363:558-561
2. Herman JG, Umar A, Polyak K, Graff JR, Ahuja N, Issa JP, Markowitz S, Willson JK, 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
3. Mitchell RJ, Farrington SM, Dunlop MG, Campbell H: Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. Am J Epidemiol 2002, 156:885-902
4. Järvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomaki P, De La Chapelle A, Mecklin JP: Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000, 118:829-834
5. Lynch HT, Riley BD, Weissman SM, Coronel SM, Kinarsky Y, Lynch JF, Shaw TG, Rubinstein WS: Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: problems in diagnosis, surveillance, and management. Cancer 2004, 100:53-64
6. Terdiman J: It is time to get serious about diagnosing Lynch syndrome (hereditary nonpolyposis colorectal cancer) with defective DNA mismatch repair in the general population. Gastroenterology 2005, 129:741-744
7. Chapusot C, Martin L, Puig PL, Ponnelle T, Cheynel N, Bouvier AM, Rageot D, Roignot P, Rat P, Faivre J, Piard F: What is the best way to assess microsatellite instability status in colorectal cancer? Study on a population base of 462 colorectal cancers. Am J Surg Pathol 2004, 28:1553-1559
8. Ward RL, Turner J, Williams R, Pekarsky B, Packham D, Velickovic M, Meagher A, O'Connor T, Hawkins NJ: Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified. J Pathol 2005, 207:377-384
9. Jass JR: Re: Ward et al. Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified (letter to the editor). J Pathol 2005, 207:377-384.
10. Jass JR: Re: Ward et al. J Pathol 2006, 208:590-591
11. Mangold E, Pagenstecher C, Friedl W, Fischer HP, Merkelbach-Bruse S, Ohlendorf M, Friedrichs N, Aretz S, Buettner R, Propping P, Mathiak M: Tumors from MSH2 mutation carriers show loss of MSH2 expression but many tumors from MLH1 mutation carriers exhibit weak positive MLH1 staining. J Pathol 2005, 207:385-395
12. Shia J, Klimstra DS, Nafa K, Offit K, Guillem JG, Markowitz AJ, Gerald WL, Ellis NA: Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germ-line mutation in hereditary colorectal neoplasms. Am J Surg Pathol 2005, 29:96-104
13. Southey MC, Jenkins MA, Mead L, Whitty J, Trivett M, Tesoriero AA, Smith LD, Jennings K, Grubb G, Royce SG, Walsh MD, Barker MA, Young JP, Jass JR, St. John DJ, Macrae FA, Giles GG, Hopper JL: Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol 2005, 23:6524-6532
14. Evans GD, Lalloo F, Mak T, Speake D, Hill J: Is it time to abandon microsatellite instability as a pre-screen for selecting families for mutation testing for mismatch repair genes? J Clin Oncol 2006, 24:1960-1962
15. Deng G, Bell I, Crawley S, Gum J, Terdiman JP, Allen BA, Truta B, Sleisenger MH, Kim YS: BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not hereditary nonpolyposis colorectal cancer. Clin Cancer Res 2004, 10:191-195
16. Zeps N, Iacopetta B, Schofield L, George J, Goldblatt J: Waiver of individual patient consent in research: when do potential benefits to the community outweigh private rights? Med J Aust 2007, 186:88-90
17. Iacopetta B, Grieu F: Routine detection of the replication error phenotype in clinical tumor specimens using fluorescence-SSCP. Biotechniques 2000, 28:566-570
18. Li WQ, Kawakami K, Ruszkiewicz A, Bennett G, Moore J, Iacopetta B: BRAF mutations are associated with distinctive clinical, pathological and molecular features of colorectal cancer independently of microsatellite instability status. Mol Cancer 2006, 5:2
19. de Leon MP, Pedroni M, Benatti P, Percesepe A, Di Gregorio C, Foroni M, Rossi G, Genuardi M, Neri G, Leonardi F, Viel A, Capozzi E, Boiocchi M, Roncucci L: Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis. Gut 1999, 45:32-38
20. Salovaara R, Loukola A, Kristo P, Kaariainen H, Ahtola H, Eskelinen M, Harkonen N, Julkunen R, Kangas E, Ojala S, Tulikoura J, Valkamo E, Jarvinen H, Mecklin JP, Aaltonen LA, de la Chapelle A: Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000, 18:2193-2200
21. Samowitz WS, Curtin K, Lin HH, Robertson MA, Schaffer D, Nichols M, Gruenthal K, Leppert MF, Slattery ML: The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer. Gastroenterology 2001, 121:830-838
22. Katballe N, Christensen M, Wikman FP, Orntoft TF, Laurberg S: Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients. Gut 2002, 50:43-51
23. Cunningham JM, Kim CY, Christensen ER, Tester DJ, Parc Y, Burgart LJ, Halling KC, McDonnell SK, Schaid DJ, Walsh Vockley C, Kubly V, Nelson H, Michels VV, Thibodeau SN: The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet 2001, 69:780-790
24. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, Lockman J, Comeras I, de la Chapelle A: Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005, 352:1851-1860
25. Ruszkiewicz A, Bennett G, Moore J, Manavis J, Rudzki B, Shen L, Suthers G: Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status in HNPCC-associated tumors. Pathology 2002, 34:541-547
26. Lindor NM, Burgart LJ, Leontovich O, Goldberg RM, Cunningham JM, Sargent DJ, Walsh-Vockley C, Petersen GM, Walsh MD, Leggett BA, Young JP, Barker MA, Jass JR, Hopper J, Gallinger S, Bapat B, Redston M, Thibodeau SN: Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002, 20:1043-1048
27. Wahlberg SS, Schmeits J, Thomas G, Loda M, Garber J, Syngal S, Kolodner RD, Fox E: 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
28. Marcus VA, Madlensky L, Gryfe R, Kim H, So K, Millar A, Temple LK, Hsieh E, Hiruki T, Narod S, Bapat BV, Gallinger S, Redston M: Immunohistochemistry for hMLH1 and hMSH2: a practical test for DNA mismatch repair-deficient tumors. Am J Surg Pathol 1999, 23:1248-1255
29. Stahl J: Mismatch repair proteins and microsatellites hit clinical practice. Adv Anat Pathol 2000, 7:85-93
30. Rigau V, Sebbagh N, Olschwang S, Parat F, Mourra N, Parc Y, Flejou JF: Microsatellite instability in colorectal carcinoma. The comparison of immunohistochemistry and molecular biology suggests a role for hMSH6 [correction of hMLH6] immunostaining. Arch Pathol Lab Med 2003, 127:694-700
31. Wright CL, Stewart ID: Histopathology and mismatch repair status of 458 consecutive colorectal carcinomas. Am J Surg Pathol 2003, 27:1393-1406
32. Jover R, Paya A, Alenda C, Poveda MJ, Peiro G, Aranda FL, Perez-Mateo M: Defective mismatch-repair colorectal cancer: clinicopathologic characteristics and usefulness of immunohistochemical analysis for diagnosis. Am J Clin Pathol 2004, 122:389-394
33. Bacher JW, Flanagan LA, Smalley RL, Nassif NA, Burgart LJ, Halberg RB, Megid WM, Thibodeau SN: Development of a fluorescent multiplex assay for detection of MSI-high tumors. Dis Markers 2004, 20:237-250
34. Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P, Chadwick RB, Kaariainen H, Eskelinen M, Jarvinen H, Mecklin JP, de la Chapelle A: Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998, 338:1481-1487
35. Hatch SB, Lightfoot Jr HM, Garwacki CP, Moore DT, Calvo BF, Woosley JT, Sciarrotta J, Funkhouser WK, Farber RA: Microsatellite instability testing in colorectal carcinoma: choice of markers affects sensitivity of detection of mismatch repair-deficient tumors. Clin Cancer Res 2005, 11:2180-2187
36. Xicola RM, Llor X, Pons E, Castells A, Alenda C, Pinol V, Andreu M, Castellvi-Bel S, Paya A, Jover R, Bessa X, Giros A, Duque JM, Nicolas-Perez D, Garcia AM, Rigau J, Gassull MA, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association: Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors. J Natl Cancer Inst 2007, 99:244-252