Denaturing high performance liquid chromatography (DHPLC) in detection of microsatellite instability

  • Metka Ravnik-Glavač
  • Gašper Berginc
  • Damjan Glavač
Keywords: microsatellite instability, mononucleotide microsatellite markers, multiplex PCR, DHPLC

Abstract

Background: Microsatellite instability (MSI) is a phenomenon characterized by small deletions or insertions within short tandem repeats in tumour DNA compared to matching normal DNA. MSI analysis is becoming more and more important for detection of hereditary non-polyposis colorectal cancer as well as for sporadic primary colorectal tumours with MSI high phenotype. Use of five quasimonomorphic mononucleotide markers eliminates ultimate need for analysis of germline DNA corresponding to tumour DNA. Here we discuss our method for MSI analysis using denaturating high performance liquid chromatography (DHPLC) in combination with quasimonomorphic mononucleotide microsatellite markers in comparison with previously used methods. The method is high-throughput, accurate, quick and cost-effective and suitable for large-scale studies as well as for daily use with smaller numbers of samples.

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References

Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993; 363: 558–61.
Aaltonen LA, Peltomaki P, Leach FS, Sistonen P, Pylkkanen L, Mecklin JP, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993; 260: 812–16.
Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1993; 260: 816–19.
Peltomaki P, Aaltonen LA, Sistonen P, Pylkkanen L, Mecklin JP, Jarvinen H, et al. Genetic mapping of a locus predisposing to human colorectal cancer. Science 1993; 260: 810–12.
Sood AK, Holmes R, Hendrix MJ, Buller RE. Application of the National Cancer Institute international criteria for determination of microsatellite instability in ovarian cancer. Cancer Res 2001; 61: 4371–74.
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.
Tomlinson I, Halford S, Aaltonen L, Hawkins N, Ward R. Does MSI-low exist? J.Pathol 2002; 197: 6–13.
Pawlik TM, Raut CP, Rodriguez-Bigas MA. Colorectal carcinogenesis: MSI-H versus MSI-L. Dis Markers 2004; 20: 199–206.
Laiho P, Launonen V, Lahermo P, Esteller M, Guo M, Herman, JG, et al. Low-level microsatellite instability in most colorectal carcinomas. Cancer Res 2002; 62: 1166–70.
Kambara T, Matsubara N, Nakagawa H, Notohara K, Nagasaka T, Yoshino T, et al. High frequency of low-level microsatellite instability in early colorectal cancer. Cancer Res 2001; 61: 7743–46.
Jass JR. Re: Tomlinson et al. Does MSI-low exist. J Pathol 2002; 197: 6-13. J Pathol 2003; 199: 267–69.
Dietmaier W, Wallinger S, Bocker T, Kullmann F, Fishel R, Ruschoff J. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res 1997; 57: 4749–56.
Warusavitarne J, Schnitzler M. The role of chemotherapy in microsatellite unstable (MSI-H) colorectal cancer. Int J Colorectal Dis 2006.
Suraweera N, Duval A, Reperant M, Vaury C, Furlan D, Leroy K, et al. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 2002; 123: 1804–11.
Buhard O, Suraweera N, Lectard A, Duval A, Hamelin R. Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis. Dis.Markers 2004; 20: 251–57.
Nash GM, Gimbel M, Shia J, Culliford AT, Nathanson DR, Ndubuisi M, et al. Automated, multiplex assay for high-frequency microsatellite instability in colorectal cancer. J Clin Oncol 2003; 21: 3105–12.
Umar A, Boland CR, Terdiman JP, Syngal S, Chapelle A, Ruschoff J, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004; 96: 261–68.
Perucho M. Correspondence re: C.R. Boland 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. Cancer Res 1999; 59: 249–56.
Akiyama Y, Sato H, Yamada T, Nagasaki H, Tsuchiya A, Abe R, et al. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 1997; 57: 3920–23.
Bacher JW, Flanagan LA, Smalley RL, Nassif NA, Burgart LJ, Halberg RB, et al. Development of a fluorescent multiplex assay for detection of MSI-High tumors. Dis.Markers 2004; 20: 237–50.
Sieben NL, Haar NT, Cornelisse CJ, Fleuren GJ, Cleton-Jansen AM. PCR artifacts in LOH and MSI analysis of microdissected tumor cells. Hum Pathol 2000; 31: 1414–19.
Hoang JM, Cottu PH, Thuille B, Salmon RJ, Thomas G, Hamelin R. BAT-26, an indicator of the replication error phenotype in colorectal cancers and cell lines. Cancer Res 1997; 57: 300–03.
Zhou XP, Hoang JM, Cottu P, Thomas G, Hamelin R. Allelic profiles of mononucleotide repeat microsatellites in control individuals and in colorectal tumors with and without replication errors. Oncogene 1997; 15: 1713–18.
Loukola A, Eklin K, Laiho P, Salovaara R, Kristo P, Jarvinen H, et al. Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC). Cancer Res 2001; 61: 4545–49.
Samowitz WS, Slattery ML, Potter JD, Leppert MF. BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphisms. Am J Pathol 1999; 154: 1637–41.
Pyatt R, Chadwick RB, Johnson CK, Adebamowo C, Chapelle A, Prior TW. Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing. Am J Pathol 1999; 155: 349–53.
Zhou XP, Hoang JM, Cottu P, Thomas G, Hamelin R. Allelic profiles of mononucleotide repeat microsatellites in control individuals and in colorectal tumors with and without replication errors. Oncogene 1997; 15: 1713–18.
Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998; 338: 1481–87.
Pinol V, Castells A, Andreu M, Castellvi-Bel S, Alenda C, Llor X, et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005; 293: 1986–94.
Salovaara R, Loukola A, Kristo P, Kaariainen H, Ahtola H, Eskelinen M, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000; 18: 2193– 2200.
Kim IJ, Shin Y, Kang HC, Park JH, Ku JL, Park HW, et al. Robust microsatellite instability (MSI) analysis by denaturing high-performance liquid chromatography (DHPLC). J Hum Genet 2003; 48: 525–30.
Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: A review. Hum Mutat 2001; 17: 439–74.
Pan KF, Liu W, Lu YY, Zhang L, Li ZP, Lu WL, et al. High throughput detection of microsatellite instability by denaturing highperformance liquid chromatography. Hum Mutat 2003; 22: 388–94.
Published
2016-12-07
How to Cite
1.
Ravnik-Glavač M, Berginc G, Glavač D. Denaturing high performance liquid chromatography (DHPLC) in detection of microsatellite instability. TEST ZdravVestn [Internet]. 7Dec.2016 [cited 5Aug.2024];76. Available from: http://vestnik-dev.szd.si/index.php/ZdravVest/article/view/1984
Section
Test Section