Efficient and reproducible identification of mismatch repair deficient colon cancer: Validation of the MMR index and comparison with other predictive models

BMC Clinical Pathology

Volumn 13, Issue 1, 2013, Pages

  Joost, Patrick ^a,b   Bendahl, Pär Ola ^c   Halvarsson, Britta ^d   Rambech, Eva ^c   Nilbert, Mef ^c,e  

^a Helsingborg General Hospital   (Sweden)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c LUND UNIVERSITY   (Sweden)

^d Medilab   (Sweden)

^e HVIDOVRE HOSPITAL   (Denmark)

Author keywords

Colorectal cancer; Microsatellite instability; Mismatch repair; Pathology; Prediction model

Indexed keywords

MISMATCH REPAIR PROTEIN;

ADULT; ARTICLE; CANCER DIAGNOSIS; CANCER LOCALIZATION; COLON CANCER; CONTROLLED STUDY; FEMALE; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISMATCH REPAIR; PREDICTION; PROTEIN EXPRESSION; SENSITIVITY AND SPECIFICITY; TUMOR ASSOCIATED LEUKOCYTE;

EID: 84890308420     PISSN: None     EISSN: 14726890     Source Type: Journal    
DOI: 10.1186/1472-6890-13-33     Document Type: Article

References (35)

1. Molecular classification and correlates in colorectal cancer. Ogino S, Goel A, J Mol Diagn 2008 10 1 13 27 (Pubitemid 351184831)
2. Morphology of sporadic colorectal cancer with DNA replication errors. Jass JR, Do KA, Simms LA, Iino H, Wynter C, Pillay SP, Searle J, Radford-Smith G, Young J, Leggett B, Gut 1998 42 5 673 679 (Pubitemid 28261055)
3. Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences. Kim H, Jen J, Vogelstein B, Hamilton SR, Am J Pathol 1994 145 1 148 156 (Pubitemid 24217493)
4. Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing age. Kakar S, Burgart LJ, Thibodeau SN, Rabe KG, Petersen GM, Goldberg RM, Lindor NM, Cancer 2003 97 6 1421 1427 (Pubitemid 36297771)
5. Late onset and high incidence of colon cancer of the mutator phenotype with hypermethylated hMLH1 gene in women. Malkhosyan SR, Yamamoto H, Piao Z, Perucho M, Gastroenterology 2000 119 2 598 (Pubitemid 30622009)
6. Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis. Young J, Simms LA, Biden KG, Wynter C, Whitehall V, Karamatic R, George J, Goldblatt J, Walpole I, Robin SA, et al. Am J Pathol 2001 159 6 2107 2116 (Pubitemid 33104265)
7. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Lynch HT, Smyrk TC, Watson P, Lanspa SJ, Lynch JF, Lynch PM, Cavalieri RJ, Boland CR, Gastroenterology 1993 104 5 1535 1549 (Pubitemid 23235432)
8. Tumor-infiltrating lymphocytes are a marker for microsatellite instability in colorectal carcinoma. Smyrk TC, Watson P, Kaul K, Lynch HT, Cancer 2001 91 12 2417 2422 (Pubitemid 32552830)
9. Phenotype of microsatellite unstable colorectal carcinomas: well-differentiated and focally mucinous tumors and the absence of dirty necrosis correlate with microsatellite instability. Greenson JK, Bonner JD, Ben-Yzhak O, Cohen HI, Miselevich I, Resnick MB, Trougouboff P, Tomsho LD, Kim E, Low M, et al. Am J Surg Pathol 2003 27 5 563 570 (Pubitemid 36514468)
10. Assessment of invasive growth pattern and lymphocytic infiltration in colorectal cancer. Jass JR, Ajioka Y, Allen JP, Chan YF, Cohen RJ, Nixon JM, Radojkovic M, Restall AP, Stables SR, Zwi LJ, Histopathology 1996 28 6 543 548
11. Does microsatellite instability predict the efficacy of adjuvant chemotherapy in colorectal cancer? a systematic review with meta-analysis. Des Guetz G, Schischmanoff O, Nicolas P, Perret GY, Morere JF, Uzzan B, Eur J Cancer 2009 45 10 1890 1896
12. Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. Sargent DJ, Marsoni S, Monges G, Thibodeau SN, Labianca R, Hamilton SR, French AJ, Kabat B, Foster NR, Torri V, et al. J Clin Oncol 2010 28 20 3219 3226
13. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. Ribic CM, Sargent DJ, Moore MJ, Thibodeau SN, French AJ, Goldberg RM, Hamilton SR, Laurent-Puig P, Gryfe R, Shepherd LE, et al. N Engl J Med 2003 349 3 247 257 (Pubitemid 36859476)
14. The efficacy of adjuvant chemotherapy with 5-fluorouracil in colorectal cancer depends on the mismatch repair status. Jover R, Zapater P, Castells A, Llor X, Andreu M, Cubiella J, Balaguer F, Sempere L, Xicola RM, Bujanda L, et al. Eur J Cancer 2009 45 3 365 373
15. Systematic review of microsatellite instability and colorectal cancer prognosis. Popat S, Hubner R, Houlston RS, J Clin Oncol 2005 23 3 609 618 (Pubitemid 46224239)
16. Microsatellite instability in sporadic colon cancer is associated with an improved prognosis at the population level. Samowitz WS, Curtin K, Ma KN, Schaffer D, Coleman LW, Leppert M, Slattery ML, Cancer Epidemiol Biomarkers Prev 2001 10 9 917 923 (Pubitemid 32844897)
17. DNA mismatch repair status and colon cancer recurrence and survival in clinical trials of 5-fluorouracil-based adjuvant therapy. Sinicrope FA, Foster NR, Thibodeau SN, Marsoni S, Monges G, Labianca R, Kim GP, Yothers G, Allegra C, Moore MJ, et al. J Natl Cancer Inst 2011 103 11 863 875
18. Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification. Parsons MT, Buchanan DD, Thompson B, Young JP, Spurdle AB, J Med Genet 2012 49 3 151 157
19. Validation microsatellite path score in a population-based cohort of patients with colorectal cancer. Bessa X, Alenda C, Paya A, Alvarez C, Iglesias M, Seoane A, Dedeu JM, Abuli A, Ilzarbe L, Navarro G, et al. J Clin Oncol 2011 29 25 3374 3380
20. A novel logistic model based on clinicopathological features predicts microsatellite instability in colorectal carcinomas. Colomer A, Erill N, Vidal A, Calvo M, Roman R, Verdu M, Cordon-Cardo C, Puig X, Diagn Mol Pathol 2005 14 4 213 223 (Pubitemid 41734997)
21. Pathologic predictors of microsatellite instability in colorectal cancer. Greenson JK, Huang SC, Herron C, Moreno V, Bonner JD, Tomsho LP, Ben-Izhak O, Cohen HI, Trougouboff P, Bejhar J, et al. Am J Surg Pathol 2009 33 1 126 133
22. A histology-based model for predicting microsatellite instability in colorectal cancers. Hyde A, Fontaine D, Stuckless S, Green R, Pollett A, Simms M, Sipahimalani P, Parfrey P, Younghusband B, Am J Surg Pathol 2010 34 12 1820 1829
23. Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study. Jenkins MA, Hayashi S, O'Shea AM, Burgart LJ, Smyrk TC, Shimizu D, Waring PM, Ruszkiewicz AR, Pollett AF, Redston M, et al. Gastroenterology 2007 133 1 48 56 (Pubitemid 47039240)
24. Microsatellite instability of the colorectal carcinoma can be predicted in the conventional pathologic examination: a prospective multicentric study and the statistical analysis of 615 cases consolidate our previously proposed logistic regression model. Roman R, Verdu M, Calvo M, Vidal A, Sanjuan X, Jimeno M, Salas A, Autonell J, Trias I, Gonzalez M, et al. Virchows Arch 2010 456 5 533 541
25. Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers. Halvarsson B, Anderson H, Domanska K, Lindmark G, Nilbert M, Am J Clin Pathol 2008 129 2 238 244 (Pubitemid 352029314)
26. Role of the pathologist in the diagnosis of hereditary non-polyposis colorectal cancer. Jass JR, Dis Markers 2004 20 4-5 215 224 (Pubitemid 40164094)
27. Carcinoma of the colon and rectum. Hamilton SR, Bosman FT, Boffetta P, Ilyas M, Morreau H, Nakamura SI, Quirke P, Riboli E, Sobin LH, WHO classification of tumours of the digestive system: 3rd volume Lyon: IARC Press, Bosman FT, Carneiro F, Hruban RH, Theise ND, 4 2010 134 146
28. Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer? Halvarsson B, Lindblom A, Rambech E, Lagerstedt K, Nilbert M, Virchows Arch 2004 444 2 135 141 (Pubitemid 38315290)
29. Young age and a positive family history of colorectal cancer are complementary selection criteria for the identification of Lynch syndrome. Manders P, Spruijt L, Kets CM, Willems HW, Bodmer D, Hebeda KM, Nagtegaal ID, van Krieken JH, Ligtenberg MJ, Hoogerbrugge N, Eur J Cancer 2011 47 9 1407 1413
30. Systematic immunohistochemistry screening for Lynch syndrome in early age-of-onset colorectal cancer patients undergoing surgical resection. Steinhagen E, Shia J, Markowitz AJ, Stadler ZK, Salo-Mullen EE, Zheng J, Lee-Kong SA, Nash GM, Offit K, Guillem JG, J Am Coll Surg 2012 214 1 61 67
31. A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours. Schofield L, Grieu F, Goldblatt J, Amanuel B, Iacopetta B, Fam Cancer 2012 11 1 1 6
32. Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability. Jass JR, Walsh MD, Barker M, Simms LA, Young J, Leggett BA, Eur J Cancer 2002 38 7 858 866 (Pubitemid 34442312)
33. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. Gryfe R, Kim H, Hsieh ET, Aronson MD, Holowaty EJ, Bull SB, Redston M, Gallinger S, N Engl J Med 2000 342 2 69 77 (Pubitemid 30036597)
34. Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function. Klarskov L, Holck S, Bernstein I, Okkels H, Rambech E, Baldetorp B, Nilbert M, Am J Surg Pathol 2011 35 9 1391 1399
35. Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJ, Morreau H, Hofstra R, Tops C, Bik E, Brocker-Vriends AH, van Der Meer C, et al. J Med Genet 2001 38 5 318 322 (Pubitemid 32433985)