A cost-effective algorithm for hereditary nonpolyposis colorectal cancer detection

American Journal of Clinical Pathology

Volumn 125, Issue 6, 2006, Pages 823-831

  Bouzourene, Hanifa ^a,b   Taminelli, Lorenzo ^a   Chaubert, Pascal ^a   Monnerat, Christian ^a   Seelentag, Walter ^a   Sandmeier, Dominique ^a   Andrejevic, Snejana ^a   Matter, Maurice ^a   Bosman, Fred ^a   Benhattar, Jean ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY INSTITUTE OF PATHOLOGY   (Switzerland)

Author keywords

Colorectal cancer; Hereditary nonpolyposis colorectal cancer; hMLH1; HNPCC; Immunohistochemistry; Methylation; Microsatellite instability

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ADULT; ARTICLE; CANCER DIAGNOSIS; CELL DIFFERENTIATION; COLORECTAL CANCER; CONSENSUS DEVELOPMENT; CONTROLLED STUDY; CORRELATION ANALYSIS; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC APPROACH ROUTE; DNA EXTRACTION; DNA METHYLATION; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LYMPHOCYTIC INFILTRATION; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SINGLE STRAND CONFORMATION POLYMORPHISM;

AGED; ALGORITHMS; CARRIER PROTEINS; COHORT STUDIES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; COST-BENEFIT ANALYSIS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION;

EID: 33744466798     PISSN: 00029173     EISSN: None     Source Type: Journal    
DOI: 10.1309/B0AFDT52ETMKEJBE     Document Type: Article

References (45)

1. Jass JR. Towards a molecular classification of colorectal cancer. Int J Colorectal Dis. 1999;14:194-200.
2. Aaltonen LA, Peltomäki P, Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer. Science. 1993;260:812-816.
3. Fearon ER, Vogelstein B. A genetic model for colorectal tumongenesis. Cell. 1990;61:759-767.
4. Ionov Y, Peinado MA, Malkhosyan S, et al. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature. 1993;363:558-561.
5. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science. 1993;260:816-819.
6. Wheeler JM, Bodmer WF, Mortensen NJ. DNA mismatch repair genes and colorectal cancer. Gut. 2000;47:148-153.
7. Papadopoulos N, Nicolaides NC, Wei YF, et al. Mutation of a mutL homolog in hereditary colon cancer. Science. 1994;263:1625-1629.
8. 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;159:2107-2116.
9. 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.
10. Thibodeau SN, French AJ, Cunningham JM, et al. Microsatellite instability in colorectal cancer: different imitator phenotypes and the principal involvement of hMLH1. Cancer Res. 1998;58:1713-1718.
11. Bronner CE, Baker SM, Morrison PT, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature. 1994;368:258-261.
12. Miyakura Y, Sugano K, Konishi F, et al. Methylation profile of the MLH1 promoter region and their relationship to colorectal carcinogenesis. Genes Chromosomes Cancer. 2003;36:17-25.
13. Herman JG, Umar A, Polyak K, et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci U S A. 1998;95:6870-6875.
14. 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.
15. Jass JR, Sobin LH, eds. Histological Typing of Intestinal Tumours. 2nd ed. Berlin, Germany: Springer-Verlag; 1989. World Health Organization International Histological Classification of Tumours.
16. Jass JR. Pathology of hereditary nonpolyposis colorectal cancer. Ann N Y Acad Sci. 2000;910:62-73.
17. Baisse B, Bian YS, Benhattar J. Microdissection by exclusion and DNA extraction for multiple PCR analyses from archival tissue sections. Biotechniques. 2000;28:856-858.
18. 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.
19. Bian YS, Yan P, Osterheld MC, et al. Promoter methylation analysis on microdissected paraffin-embedded tissues using bisulfite treatment and PCR-SSCP. Biotechniques. 2001;30:66-72.
20. Benhattar J, Clement G. Methylation-sensitive single-strand conformation analysis: a rapid method to screen for and analyze DNA methylation. Methods Mol Biol. 2004;287:181-193.
21. Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homologue MSH2 and its association with hereditary nonpolyposis colon cancer. Cell. 1993;75:1027-1038.
22. Toft NJ, Arends MJ. DNA mismatch repair and colorectal cancer. J Pathol. 1998;185:123-129.
23. Salovaara R, Loukola A, Kristo P, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol. 2000;18:2193-2200.
24. Aaltonen LA, Salovaara R, Kristo P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med. 1998;338:1481-1487.
25. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96:261-268.
26. Gryfe R, Kim H, Hsieh ET, et al. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. N Engl J Med. 2000;342:69-77.
27. Lukish JR, Muro K, DeNobile J, et al. Prognostic significance of DNA replication errors in young patients with colorectal cancer. Ann Surg. 1998;227:51-56.
28. Wright CM, Dent OF, Barker M, et al. Prognostic significance of extensive microsatellite instability in sporadic clinicopathological stage C colorectal cancer. Br J Surg. 2000;87:1197-1202.
29. Hemminki A, Mecklin JP, Jarvinen H, et al. Microsatellite instability is a favorable prognostic indicator in patients with colorectal cancer receiving chemotherapy. Gastroenterology. 2000;119:921-928.
30. Elsaleh H, Shannon B, Iacopetta B. Microsatellite instability as a molecular marker for very good survival in colorectal cancer patients receiving adjuvant chemotherapy [letter]. Gastroenterology. 2001;120:1309-1310.
31. Popat S, Hubner R, Houlston RS. Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol. 2005;23:609-618.
32. 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;349:247-257.
33. Fink D, Aebi S, Howell SB. The role of DNA mismatch repair in drug resistance. Clin Cancer Res. 1998;4:1-6.
34. Laiho P, Launonen V, Lahermo P, et al. Low-level microsatellite instability in most colorectal carcinomas. Cancer Res. 2002;62:1166-1170.
35. de la Chapelle A. Microsatellite instability phenotype of tumors: genotyping or immunohistochemistry? the jury is still out [editorial]. J Clin Oncol. 2002;20:897-899.
36. 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.
37. 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.
38. Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002;20:1043-1048.
39. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352:1851-1860.
40. Liu B, Parsons R, Papadopoulos N, et al. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med. 1996;2:169-174.
41. Hatch SB, Lightfoot HM Jr, Garwacki CP, et al. 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.
42. 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.
43. Chapusot C, Martin L, Laurent Puig P, et al. What is the best way to assess microsatellite instability status in colorectal cancer. Am J Surg Pathol. 2004;28:1553-1559.
44. Shia J, Klimstra DS, Nafa K, et al. Value of immunohistochemistry detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms. Am J Surg Pathol. 2005;29:96-104.
45. Gafa R, Maestri I, Matteuzzi M, et al. Sporadic colorectal adenocarcinomas with high-frequency microsatellite instability. Cancer. 2000;89:2025-2037.