What is the best way to assess microsatellite instability status in colorectal cancer? Study on a population base of 462 colorectal cancers

American Journal of Surgical Pathology

Volumn 28, Issue 12, 2004, Pages 1553-1559

  Chapusot, C ^a,b,c,g   Martin, L ^a,b   Laurent Puig, P ^d,e   Ponnelle, T ^a,b,c   Cheynel, N ^c   Bouvier, A M ^c   Rageot, D ^a,b,c   Roignot, P ^f   Rat, P ^c   Faivre, J ^c   Piard, F ^a,b,c  

^a Service d'Anatomie Pathologique   (France)

^b UNIVERSITÉ DE BOURGOGNE   (France)

^c INSERM   (France)

^d HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^e Lab de Toxicologie Moleculaire   (France)

^f Centre de Pathologie   (France)

^g DIJON UNIVERSITY HOSPITAL   (France)

Author keywords

BAT 26; Colorectal cancer; Immunohistochemistry; Microsatellite instability; Mismatch repair proteins

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ACCURACY; AGED; ANALYTIC METHOD; ARTICLE; CANCER SURGERY; COLORECTAL CANCER; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; FEMALE; GENOTYPE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; POLYMERASE CHAIN REACTION; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; TISSUE LEVEL;

EID: 9444227024     PISSN: 01475185     EISSN: None     Source Type: Journal    
DOI: 10.1097/00000478-200412000-00002     Document Type: Article

References (48)

1. Baisse B, Bouzourene H, Saraga EP, et al. Intratumor genetic heterogeneity in advanced human colorectal adenocarcinoma. Int J Cancer. 2001;93:346-352.
2. Barnetson R, Eckstein R, Robinson B, et al. There is no increase in frequency of somatic mutations in metastases compared with primary colorectal carcinomas with microsatellite instability. Genes Chromosomes Cancer. 2003;38:149-156.
3. 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;58:5248-5257.
4. Brueckl WM, Moesch C, Brabletz T, et al. Relationship between microsatellite instability, response and survival in palliative patients with colorectal cancer undergoing first-line chemotherapy. Anticancer Res. 2003;23:1773-1778.
5. Cawkwell L, Gray S, Murgatroyd H, et al. Choice of management strategy for colorectal cancer based on a diagnostic immunohistochemical test for defective mismatch repair. Gut. 1999;45:409-415.
6. Chapusot C, Martin L, Bouvier AM, et al. Microsatellite instability and intratumoral heterogeneity in 100 right-sided sporadic colon carcinomas. Br J Cancer. 2002;87:400-404.
7. 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.
8. Chiaravalli AM, Furlan D, Facco C, et al. Immunohistochemical pattern of hMSH2/hMLH1 in familial and sporadic colorectal, gastric, endometrial and ovarian carcinomas with instability in microsatellite sequences. Virchows Arch. 2001;438:39-48.
9. Curia MC, Palmirotta R, Aceto G, et al. Unbalanced germ-line expression of hMLH1 and hMSH2 alleles in hereditary nonpolyposis colorectal cancer. Cancer Res. 1999;59:3570-3575.
10. Debniak T, Kurzawski G, Gorski B, et al. Value of pedigree/clinical data, immunohistochemistry and microsatellite instability analyses in reducing the cost of determining hMLH1 and hMSH2 gene mutations in patients with colorectal cancer. Eur J Cancer. 2000;36:49-54.
11. Dietmaier W, Wallinger S, Bocker T, et al. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res. 1997;57:4749-4756.
12. Dieumegard B, Grandjouan S, Sabourin JC, et al. Extensive molecular screening for hereditary non-polyposis colorectal cancer. Br J Cancer. 2000;82:871-880.
13. Elsaleh H, Joseph D, Grieu F, et al. Association of tumor site and sex with survival benefit from adjuvant chemotherapy in colorectal cancer. Lancet. 2000;355:1745-1750.
14. Elsaleh H, Shannon B, Iacopetta B. Microsatellite instability as a molecular marker for very good survival in colorectal cancer patients receiving adjuvant chemotherapy. Gastroenterology. 2001;120:1309-1310.
15. Fukunari H, Iwama T, Sugihara K, et al. Intratumoral heterogeneity of genetic changes in primary colorectal carcinomas with metastasis. Surg Today. 2003;33:408-413.
16. Garcia JM, Rodriguez R, Silva J, et al. Intratumoral heterogeneity in microsatellite alterations in BRCA1 and PTEN regions in sporadic colorectal cancer. Ann Surg Oncol. 2003;10:876-881.
17. Georgiades IB, Curtis LJ, Morris RM, et al. Heterogeneity studies identify a subset of sporadic colorectal cancers without evidence for chromosomal or microsatellite instability. Oncogene. 1999;18:7933-7940.
18. 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.
19. Habano W, Sugai T, Nakamura S. Mismatch repair deficiency leads to a unique mode of colorectal tumorigenesis characterized by intratumoral heterogeneity. Oncogene. 1998;16:1259-1265.
20. Halling KC, Roche PC. Immunohistochemical analysis for hMLH1 and hMSH2 expression in colorectal cancer. In: Powell SM, ed. Colorectal Cancer: Methods and Protocols. Totowa, NJ: Humana Press, 2001:81-86.
21. Hemminki A, Mecklin AP, Jarvinen H, et al. Microsatellite instability is a favorable prognostic indicator in patients with colorectal cancer receiving chemotherapy. Gastroenterology. 2000;119:921-928.
22. Hoang JM, Cottu PH, Thuille B, et al. BAT-26, an indicator of the replication error phenotype in colorectal cancers and cell lines. Cancer Res. 1997;57:300-303.
23. Khurana V, Stollman N, Rogers AI. Colorectal cancer: predicting prognosis for patients and probands using immunohistochemistry. Am J Gastroenterol. 2000;95:2981-2982.
24. Kim H, Piao Z, Kim JW, et al. Expression of hMSH2 and hMLH1 in colorectal carcinomas with microsatellite instability. Pathol Res Pract. 1998;194:3-9.
25. Landis JR, Koch GG. The measurement of observer agreement for categorical data. Biometrics. 1977;33:159-174.
26. 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.
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. Liu T, Wahlberg S, Burek E, et al. Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer. Genes Chromosomes Cancer. 2000;27:17-25.
29. 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.
30. Monzon F, Kovatich A, Barusevicius A, et al. Effect of fixation time on the immunohistochemical detection of hMLH1 and hMSH2 in paraffin-embedded tissue. Mod Pathol. 1999;12:193A.
31. Muller W, Burgart LJ, Krause-Paulus R, et al. The relativity of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC): results of an international collaborative study. Familial Cancer. 2001;1:87-92.
32. Paraf F, Gilquin M, Longy M, et al. MLH1 and MSH2 protein immunohistochemistry is useful for detection of hereditary non-polyposis colorectal cancer in young patients. Histopathology. 2001;39:250-258.
33. 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.
34. Ribic CM, Sargent DJ, Moore MJ, et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med. 2003;17:247-257.
35. Salahshor S, Koelble K, Rubio C, et al. Microsatellite instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer. Lab Invest. 2001;81:535-541.
36. Samowitz VS, Curtin K, Ma KN, et al. Microsatellite instability in sporadic colon cancer is associated with an improved prognosis at the population level. Cancer Epidemiol Biomarkers Prev. 2001;10:917-923.
37. Samowitz WS, Slattery ML. Regional reproducibility of microsatellite instability in sporadic colorectal cancer. Genes Chromosomes Cancer. 1999;26:106-114.
38. Scartozzi M, Bianchi F, Rosati S, et al. Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression. J Clin Oncol. 2002;20:1203-1208.
39. Stahl J. Mismatch repair proteins and microsatellites hit clinical practice. Adv Anat Pathol. 2000;7:85-93.
40. Stone JG, Tomlinson IP, Houlston RS. Optimising methods for determining RER status in colorectal cancers. Cancer Lett. 2000;149:15-20.
41. 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. Erratum in 2001;54:656.
42. Terdiman JP, Gum JR, Conrad PG, et al. Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing. Gastroenterology. 2001;120:21-30.
43. Thibodeau SN, French AJ, Cunningham JM, et al. Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1. Cancer Res. 1998;58:1713-1718.
44. Thibodeau SN, French AJ, Roche PC, et al. Altered expression of hMHS2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res. 1996;56:4836-4840.
45. Wahlberg SS, Schmeits J, Thomas G, et al. Evaluation of microsatellite instability and immunohistochemistry for the predictor of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. Cancer Res. 2002;62:3485-3492.
46. Ward R, Meagher A, Tomlinson I, et al. Microsatellite instability and the clinicopathological features of sporadic colorectal cancer. Gut. 2001;48:821-829.
47. Watanabe T, Wu TT, Catalano PJ, et al. Molecular predictors of survival after adjuvant chemotherapy for colon cancer. N Engl J Med. 2001;344:1196-1206.
48. Zhou XP, Hoang JM, Li YJ, et al. Determination of the replication error phenotype in human tumors without the requirement for matching normal DNA by analysis of mononucleotide repeat microsatellites. Genes Chromosomes Cancer. 1998;21:101-107.