Immunohistochemistry for PMS2 and MSH6 alone can replace a four antibody panel for mismatch repair deficiency screening in colorectal adenocarcinoma

Pathology

Volumn 42, Issue 5, 2010, Pages 409-413

  Hall, Geoffrey ^a,b   Clarkson, Adele ^b   Shi, Amanda ^b   Langford, Eileen ^b,c   Leung, Helen ^a,c   Eckstein, Robert P ^b,c   Gill, Anthony J ^b,c  

^a Westmead Public Hospital   (Australia)

^b ROYAL NORTH SHORE HOSPITAL   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Colorectal cancer; Hereditary non polyposis colorectal cancer; Immunohistochemical staining; Lynch's syndrome; Microsatellite instability; Mismatch repair; MLH1; MLH2; MLH6; PMS2

Indexed keywords

ADENOSINE TRIPHOSPHATASE; DNA BINDING PROTEIN; MSH2 PROTEIN, HUMAN; PMS2 PROTEIN, HUMAN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; PROTEIN MSH2; TUMOR MARKER;

ADENOCARCINOMA; ADULT; AGED; COLORECTAL TUMOR; COMPARATIVE STUDY; DEFICIENCY; ENZYME IMMUNOASSAY; FEMALE; GENETICS; HUMAN; IMMUNOLOGY; MALE; METABOLISM; MIDDLE AGED; MISMATCH REPAIR; PREDICTIVE VALUE; VERY ELDERLY; YOUNG ADULT;

ADENOCARCINOMA; ADENOSINE TRIPHOSPHATASES; ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS; DNA MISMATCH REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FEMALE; HUMANS; IMMUNOENZYME TECHNIQUES; MALE; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; PREDICTIVE VALUE OF TESTS; TUMOR MARKERS, BIOLOGICAL; YOUNG ADULT;

EID: 77954784170     PISSN: 00313025     EISSN: 14653931     Source Type: Journal    
DOI: 10.3109/00313025.2010.493871     Document Type: Article

References (19)

1. Australian Cancer Network Colorectal Cancer Guidelines Revision Comittee. Guidelines for the Prevention, Early Detection and Management of Colorectal Cancer. 2nd ed. Sydney: Australian Cancer Network, 2005. http://www.cancer.org. au/Healthprofessionals/ clinicalguidelines/colorectalcancer.htm
2. Yantiss RK, Goodarzi M, Zhou XK, et al. Clinical, pathologic, and molecular features of early-onset colorectal carcinoma. Am J Surg Pathol 2009; 33: 572-582
3. Boland CR, Koi M, Chang DK, et al. The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: from bench to bedside. Fam Cancer 2008; 7: 41-52.
4. Yang G, Scherer SJ, Shell SS, et al. Dominant effects of an Msh6 missense mutation on DNA repair and cancer susceptibility. Cancer Cell 2004; 6: 139-150
5. Carethers JM, Hawn MT, Chauhan DP, et al. Competency in mismatch repair prohibits clonal expansion of cancer cells treated with N-methyl- N0-nitro-N-nitrosoguanidine. J Clin Invest 1996; 98: 199-206.
6. Plotz G, Welsch C, Giron-Monzon L, et al. Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair. Nucleic Acids Res 2006; 34: 6574-6586
7. Perucho M. Microsatellite instability: the mutator that mutates the other mutator. Nat Med 1996; 2: 630-631
8. Smolarz B,Romanowicz-Makowska H, Langner E, et al.Genetic analysis of microsatellite markers in patients from hereditary nonpolyposis colorectal cancer (HNPCC) families. Exp Oncol 2004; 26: 205-209
9. Poynter JN, Siegmund KD, Weisenberger DJ, et al. Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening. Cancer Epidemiol Biomarkers Prev 2008; 17: 3208-3215
10. Loughrey MB, Waring PM, Tan A, et al. Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Fam Cancer 2007; 6: 301-310
11. Bettstetter M, Dechant S, Ruemmele P, et al. Distinction of hereditary nonpolyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by realtime PCR. Clin Cancer Res 2007; 13: 3221-3228
12. Shia J, Tang LH, Vakiani E, et al. Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: A 2-antibody panel may be as predictive as a 4-antibody panel. Am J Surg Pathol 2009; 33: 1639-1645
13. 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 (Pubitemid 38256271)
14. Watson N, Grieu F, Morris M, et al. Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer. J Mol Diagn 2007; 9: 472-478
15. Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008; 26: 5783-5788
16. Iacopetta B, Li WQ, Grieu F, et al. BRAF mutation and gene methylation frequencies of colorectal tumours with microsatellite instability increase markedly with patient age. Gut 2006; 55: 1213-1214
17. Clark AJ, Barnetson R, Farrington SM, et al. Prognosis in DNA mismatch repair deficient colorectal cancer: Are all MSI tumours equivalent? Fam Cancer 2004; 3: 85-91.
18. Southey MC, Jenkins MA, Mead L, et al. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol 2005; 23: 6524-6532
19. Truninger K, Menigatti M, Luz J, et al. Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Gastroenterology 2005; 128: 1160-1171