Microsatellite Instability and Promoter Hypermethylation of DNA repair genes in Hematologic Malignancies: a forthcoming direction toward diagnostics

References

• Sattler M, Griffin JD. Molecular mechanisms of transformation by the BCR-ABL oncogene. Semin Hematol. 2003;40:4–10. doi: 10.1053/shem.2003.50034
   PubMed Web of Science ®Google Scholar
• Garcia-Manero G, Faderl S, O’Brien S, et al. Chronic myelogenous leukemia: a review and update of therapeutic strategies. Cancer. 2003;98:437–457. doi: 10.1002/cncr.11520
   PubMed Web of Science ®Google Scholar
• Boland CR, Goel A. The silence of the genes: matching mismatch repair defects with tumors. Cancer. 2003;98:2091–2094. doi: 10.1002/cncr.11769
   PubMed Web of Science ®Google Scholar
• Shilpa V, Lakshmi K. Molecular mechanisms of mismatch repair genes in cancer – A brief review. J Proteom Genom. 2014;1:101–108.
   Google Scholar
• Chikan NA, Shabir N, Shaffi S, et al. N-nitrosodimethylamine in the Kashmiri diet and possible roles in the high incidence of gastrointestinal cancers. Asian Pac J Cancer Prev. 2012;13:1077–1079. doi: 10.7314/APJCP.2012.13.3.1077
   PubMed Web of Science ®Google Scholar
• Holliday R, Grigg GW. DNA methylation and mutation. Mutat Res. 1993;285:61–67. doi: 10.1016/0027-5107(93)90052-H
   PubMed Web of Science ®Google Scholar
• Hlle SE, Shabashev S, Eckert KA. Tumor-specific microsatellite instability: do distinct mechanisms underlie the MSI-L and EMAST phenotypes? Mutat Res. 2013;743–744:67–77. doi: 10.1016/j.mrfmmm.2012.11.003
   PubMed Web of Science ®Google Scholar
• Boultwood J, Wainscoat JS. Gene silencing by DNA methylation in haematological malignancies. Br J Haematol. 2007;138:3–11. doi: 10.1111/j.1365-2141.2007.06604.x
   PubMed Web of Science ®Google Scholar
• Maletzki C, Schmidt F, Dirks WG, et al. Frameshift-derived neoantigens constitute immunotherapeutic targets for patients with microsatellite-instable haematologic malignancies, frameshift peptides for treating MSI+ blood cancer. Eur J Cancer. 2013;49:2587–2595. doi: 10.1016/j.ejca.2013.02.035
   PubMed Web of Science ®Google Scholar
• Patel T, Chakraborty M, Bhattacharya P. Microsatellite instability in chronic myeloid leukemia using D17S261 and D3S643 markers- a pilot study in western India. Clin Lymphoma Myeloma Leuk. 2016;16:S54–S55. doi: 10.1016/j.clml.2016.07.079
   Google Scholar
• Put N, Michaux L, Vandenberghe P. The cytogenetic and molecular diagnosis of haematological malignancies: an overview of current techniques. Belg J Hematol. 2014;5:3–11.
   Google Scholar
• Hussaini M. Biomarkers in haematological malignancies: a review of molecular testing in haematopathology. Cancer Control. 2015;22:158–166. doi: 10.1177/107327481502200206
   PubMed Web of Science ®Google Scholar
• Atlas of genetics and cytogenetics in oncology and haematology. Available from: http://www.atlasgeneticsoncology.org/ [accessed 1.3.2017].
   Google Scholar
• Huntly BJ, Bench A, Green AR. Double jeopardy from a single translocation: deletions of the derivative chromosome 9 in chronic myeloid leukemia. Blood. 2003;102:1160–1168. doi: 10.1182/blood-2003-01-0123
   PubMed Web of Science ®Google Scholar
• Claij N, te Riele H. Microsatellite instability in human cancer: a prognostic marker for chemotherapy? Exp Cell Res. 1999;246:1–10. doi: 10.1006/excr.1998.4299
   PubMed Web of Science ®Google Scholar
• Hangaishi A, Ogawa S, Mitani K, et al. Mutations and loss of expression of a mismatch repair gene hMLH1 in leukemia and lymphoma cell lines. Blood. 1997;89:1740–1747.
   PubMed Web of Science ®Google Scholar
• Wada C, Shionoya S, Fujino Y, et al. Genomic instability of microsatellite repeats and its association with the evolution of chronic myelogenous leukemia. Blood. 1994;83:3449–3456.
   PubMed Web of Science ®Google Scholar
• Inoue K, Kohno T, Takakura S, et al. Frequent microsatellite instability and BAX mutations in T cell acute lymphoblastic leukemia cell lines. Leuk Res. 2000;24:255–262. doi: 10.1016/S0145-2126(99)00182-4
   PubMed Web of Science ®Google Scholar
• Gu L, Cline-Brown B, Zhang F, et al. Mismatch repair deficiency in haematological malignancies with microsatellite instability. Oncogene. 2002;21:5758–5764. doi: 10.1038/sj.onc.1205695
   PubMed Web of Science ®Google Scholar
• Niv E, Bomstein Y, Bernheim J, et al. Microsatellite instability in gastric-MALT lymphoma. Mod Pathol. 2004;17:1407–1413. doi: 10.1038/modpathol.3800207
   PubMed Web of Science ®Google Scholar
• Mori N, Takeuchi S, Tasaka T, et al. Absence of microsatellite instability during the progression of chronic myeloid leukemia. Leukemia. 1997;11:151–152. doi: 10.1038/sj.leu.2400524
   PubMed Web of Science ®Google Scholar
• Rimsza LM, Kopecky KJ, Ruschulte J, et al. Microsatellite instability is not a defining genetic feature of acute myeloid leukemogenesis in adults: results of a retrospective study of 132 patients and review of the literature. Leukemia. 2000;14:1044–1051. doi: 10.1038/sj.leu.2401699
   PubMed Web of Science ®Google Scholar
• Sercan HO, Sercan ZY, Kizildag S, et al. Microsatellite instability is a rare phenomenon in transition from chronic to blastic phase chronic myeloid leukemia. Turk J Cancer. 2001;31:63–71.
   Google Scholar
• Jin B, Robertson KD. DNA methyltransferases, DNA damage repair, and cancer. Adv Exp Med Biol. 2013;754:3–29. doi: 10.1007/978-1-4419-9967-2_1
   PubMed Web of Science ®Google Scholar
• Esteller M, Herman JG. Cancer as an epigenetic disease: DNA methylation and chromatin alterations in human tumours. J Pathol. 2002;196:1–7. doi: 10.1002/path.1024
   PubMed Web of Science ®Google Scholar
• Jones PA, Baylin SB. The fundamental role of epigenetic events in cancer. Nat Rev Genet. 2002;3:900–900. doi: 10.1038/nrg962
   Web of Science ®Google Scholar
• Herman JG, Baylin SB. Gene silencing in cancer in association with promoter hypermethylation. N Engl J Med. 2003;349:2042–2054. doi: 10.1056/NEJMra023075
   PubMed Web of Science ®Google Scholar
• Seedhouse CH, Das-Gupta EP, Russell NH. Methylation of the hMLH1 promoter and its association with microsatellite instability in acute myeloid leukemia. Leukemia. 2003;17:83–88. doi: 10.1038/sj.leu.2402747
   PubMed Web of Science ®Google Scholar
• Matsushita M, Takeuchi S, Yang Y, et al. Methylation of the MLH1 gene in hematological malignancies. Oncol Rep. 2005;14:191–194.
   PubMed Web of Science ®Google Scholar
• Esteller M, Garcia-Foncillas J, Andion E, et al. Inactivation of the DNA-repair gene MGMT and the clinical response of gliomas to alkylating agents. N Engl J Med. 2000;343:1350–1354. doi: 10.1056/NEJM200011093431901
   PubMed Web of Science ®Google Scholar
• Sheikhha MH, Tobal K, Liu Yin JA. High level of microsatellite instability but not hypermethylation of mismatch repair genes in therapy-related and secondary acute myeloid leukaemia and myelodysplastic syndrome. Br J Haematol. 2002;117:359–365. doi: 10.1046/j.1365-2141.2002.03458.x
   PubMed Web of Science ®Google Scholar
• Fülöp Z, Csernus B, Timar B, et al. Microsatellite instability and hMLH1 promoter hypermethylation in Richter’s transformation of chronic lymphocytic leukemia. Leukemia. 2003;17:411–415. doi: 10.1038/sj.leu.2402792
   PubMed Web of Science ®Google Scholar
• Morimoto H, Tsukada J, Kominato Y, et al. Reduced expression of human mismatch repair genes in adult T-cell leukemia. Am J Hematol. 2005;78:100–107. doi: 10.1002/ajh.20259
   PubMed Web of Science ®Google Scholar
• Uehara E, Takeuchi S, Yang Y, et al. Aberrant methylation in promoter-associated CpG islands of multiple genes in chronic myelogenous leukemia blast crisis. Oncol Lett. 2012;3:190–192. doi: 10.3892/ol.2011.419
   PubMed Web of Science ®Google Scholar
• Nagasaka T, Rhees J, Kloor M, et al. Somatic hypermethylation of MSH2 is a frequent event in Lynch syndrome colorectal cancers. Cancer Res. 2010;70:3098–3108. doi: 10.1158/0008-5472.CAN-09-3290
   PubMed Web of Science ®Google Scholar
• Czerninski R, Krichevsky S, Ashhab Y, et al. Promoter hypermethylation of mismatch repair genes, hMLH1 and hMSH2 in oral squamous cell carcinoma. Oral Dis. 2009;15:206–213. doi: 10.1111/j.1601-0825.2008.01510.x
   PubMed Web of Science ®Google Scholar
• Zhang H, Zhang S, Cui J, et al. Expression and promoter methylation status of mismatch repair gene hMLH1 and hMSH2 in epithelial ovarian cancer. Aust N Z J Obstet Gynaecol. 2008;48:505–509. doi: 10.1111/j.1479-828X.2008.00892.x
   PubMed Web of Science ®Google Scholar
• Titze S, Peters H, Wahrisch S, et al. Differential MSH2 promoter methylation in blood cells of neurofibromatosis type 1 (NF1) patients. Eur J Hum Genet. 2010;18:81–87. doi: 10.1038/ejhg.2009.129
   PubMed Web of Science ®Google Scholar
• Kim HG, Lee S, Kim DY, et al. Aberrant methylation of DNA mismatch repair genes in elderly patients with sporadic gastric carcinoma: a comparison with younger patients. J Surg Oncol. 2010;101:28–35. doi: 10.1002/jso.21432
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Matos LL, Trufelli DC, Matos MG, et al. Immunohistochemistry as an important tool in biomarkers detection and clinical practice. Biomark Insights. 2010;5:9–20. doi: 10.4137/BMI.S2185
   PubMedGoogle Scholar
• Delpu Y, Cordelier P, Cho WC, et al. DNA methylation and cancer diagnosis. Int J Mol Sci. 2013;14:15029–15058. doi: 10.3390/ijms140715029
   PubMed Web of Science ®Google Scholar
• Llosa NJ, Cruise M, Tam A, et al. The vigorous immune microenvironment of microsatellite instable colon cancer is balanced by multiple counter-inhibitory checkpoints. Cancer Discov. 2015;5:43–51. doi: 10.1158/2159-8290.CD-14-0863
   PubMed Web of Science ®Google Scholar
• Gao D, Herman JG, Guo M. The clinical value of aberrant epigenetic changes of DNA damage repair genes in human. Oncotarget. 2016;7:37331–37346.
   PubMedGoogle Scholar
• Jiang D, Hong Q, Shen Y, et al. The diagnostic value of DNA methylation in leukemia: a systematic review and meta-analysis. PLoS One. 2014;9:1–7.
   Web of Science ®Google Scholar
• Palmieri G, Colombino M, Cossu A, et al. Genetic instability and increased mutational load: which diagnostic tool best direct patients with cancer to immunotherapy? J Transl Med. 2017;15:2189. doi: 10.1186/s12967-017-1119-6
   Web of Science ®Google Scholar