Identification of cancer patients with lynch syndrome: Clinically significant discordances and problems in tissue-based mismatch repair testing

Cancer Prevention Research

Volumn 5, Issue 2, 2012, Pages 320-327

  Bartley, Angela N ^a   Luthra, Rajyalakshmi ^a   Saraiya, Devki S ^a   Urbauer, Diana L ^a   Broaddus, Russell R ^a  

^a UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER PATIENT; DNA METHYLATION; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; POPULATION RESEARCH; PRIORITY JOURNAL; TUMOR LOCALIZATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA REPAIR ENZYMES; DNA, NEOPLASM; DNA-BINDING PROTEINS; FEMALE; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; IMMUNOENZYME TECHNIQUES; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NEOPLASMS; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; PROGNOSIS; YOUNG ADULT;

EID: 84857672379     PISSN: 19406207     EISSN: 19406215     Source Type: Journal    
DOI: 10.1158/1940-6207.CAPR-11-0288     Document Type: Article

References (30)

1. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003;348:919-32. (Pubitemid 36298000)
2. Cunningham JM, Kim CY, Christensen ER, Tester DJ, Parc Y, Burgart LJ, et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet 2001;69:780-90. (Pubitemid 32868523)
3. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuuebler P, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005;352:1851-60.
4. Chen S, Wang W, Lee S, Nafa K, Lee J, Romans K, et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 2006;296:1479-87. (Pubitemid 44465512)
5. Balmana J, Stockwell DH, Steyerberg EW, Stoffel EM, Deffenbaugh AM, Reid JE, et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 2006;296:1469-78. (Pubitemid 44465511)
6. Barnetson RA, Tenesa A, Farrington SM, Nicholl ID, Cetnarskyj R, Porteous ME, et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 2006;354: 2751-63. (Pubitemid 43974193)
7. Grovel S, Syngal S. Risk assesment, genetic testing and management of Lynch syndrome. J Natl Compr Canc Netw 2010;8:98-105.
8. Shia J. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn 2008;10:293-300. (Pubitemid 352019113)
9. Lanza G, Gafa R, Santini A, Maestri I, Guerzoni L, Cavazzini L. Immunohistochemical test for MLH1 and MSH2 expression predicts clinical outcome in stage II and III colorectal cancer patients. J Clin Oncol 2006;24:2359-67. (Pubitemid 46630668)
10. Ruszkiewicz A, Bennett G, Moore J, Manavis J, Rudzki B, Shen L, et al. Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status inHNPCC-associated tumours. Pathology 2002;34:541-7. (Pubitemid 36026729)
11. Sheng JQ, Zhang H, Ji M, Fu L, Mu H, Zhang MZ, et al. Genetic diagnosis strategy of hereditary non-polyposis colorectal cancer. World J Gastroenterol 2009;15:983-9.
12. Pedroni M, Roncari B, Maffei S, Losi L, Scarselli A, Di Gregorio C, et al. A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. Dis Markers 2007;23:179-87. (Pubitemid 46868409)
13. Rigau V, Sebbagh N, Olschwang S, Paraf F, Mourra N, Parc Y, et al. 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. (Pubitemid 36617287)
14. Rosen DG, Cai KQ, Luthra R, Liu J. Immunohistochemical staining of hMLH1 and hMSH2 reflects microsatellite instability status in ovarian carcinoma. Mod Pathol 2006;19:1414-20. (Pubitemid 44624159)
15. Marcus VA, Madlensky L, Gryfe R, Kim H, So K, Millar A, et al. Immunohistochemistry for hMLH1 and hMSH2: a practical test for DNA mismatch repair-deficient tumors. Am J Surg Pathol 1999;23: 1248-55. (Pubitemid 29474595)
16. Hampel H. Point: justification for lynch syndrome screening among all patients with newly diagnosed colorectal cancer. J Natl Compr Canc Netw 2010;8:597-601.
17. Roy JE, Hunt JL. Detection and classification of diagnostic discrepancies (errors) in surgical pathology. Adv Anat Pathol 2010;17:359-65.
18. Cai KQ, Albarracin C, Rosen D, Zhong R, Zheng W, Luthra R, et al. Microsatellite instability and alteration of the expression of hMLH1 and hMSH2 in ovarian clear cell carcinoma. Hum Pathol 2004;35: 552-9. (Pubitemid 38656938)
19. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, 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: 5248-57.
20. Lu KH, Schorge JO, Rodabaugh KJ, Daniels MS, Sun CC, Soliman PT, et al. Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer. J Clin Oncol 2007; 25:5158-64. (Pubitemid 350232246)
21. Samowitz WS, Albertsen H, Sweeney C, Herrick J, Caan BJ, Anderson KE, et al. Association of smoking, CpG island methylator phenotype, and V600E BRAF mutations in colon cancer. J Natl Cancer Inst 2006;98:1731-8. (Pubitemid 44942711)
22. Evans GD, Lalloo F,Mak T,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;20: 1960-2. (Pubitemid 46639003)
23. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008;10:5783-8.
24. Baudhuin LN, Burgart LJ, Leontovich O, Thibodeau SN. Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch Syndrome. Fam Cancer 2005;4:255-65. (Pubitemid 41242196)
25. Chapusot C, Martin L, Puig PL, Ponnelle T, Cheynel N, Bouvier AM, et al. 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;28:1553-9. (Pubitemid 39564959)
26. Barrow E, McMahon R, Evans DG, Levine E, Hill J. Cost analysis of biomarker testing for mismatch repair deficiency in node-positive colorectal cancer. Br J Surg 2008;95:868-75.
27. Arnold CN, Goel A, Compton C, Marcus V, Niedzwiecki D, Dowell JM, et al. Evaluation of microsatellite instability, hMLH1 expression and hMLH1 promoter hypermethylation in defining the MSI phenotype of colorectal cancer. Cancer Biol Ther 2004;3:73-8. (Pubitemid 41342423)
28. Kuismanen SA, Moisio AL, Schweizer P, Truninger K, Salovaara R, Arola J, et al. Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability. Am J Path 2000;160:1953-8.
29. Berends M,WuY, Sijmons R, Mensink RG, van der Sluis T, Hordijk-Hos JM, et al. Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. Am J Hum Gen 2002;70:26-37.
30. Pineda M, Gonzalez S, Lazaro C, Blanco I, Capella G. Detection of genetic alterations in hereditary colorectal cancer screening. Mutat Res 2010;693:19-31.