<?xml version="1.1" encoding="utf-8"?>
<article xsi:noNamespaceSchemaLocation="http://jats.nlm.nih.gov/publishing/1.1/xsd/JATS-journalpublishing1-mathml3.xsd" dtd-version="1.1" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"><front><journal-meta><journal-id journal-id-type="publisher-id">PAR</journal-id><journal-title-group><journal-title>Proceedings of Anticancer Research</journal-title></journal-title-group><issn>2208-3545</issn><eissn>2208-3553</eissn><publisher><publisher-name>Bio-Byword Scientific Publishing Pty. Ltd.</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.26689/par.v5i4.2314</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title>Analysis of Microsatellite Instability in Colorectal Cancer and Precursor Lesions</title><url>https://artdesignp.com/journal/PAR/5/4/10.26689/par.v5i4.2314</url><author>YeGe,ChenHong,ZhangJinku,SunJirui</author><pub-date pub-type="publication-year"><year>2021</year></pub-date><volume>5</volume><issue>4</issue><history><date date-type="pub"><published-time>2021-07-30</published-time></date></history><abstract>In many countries, colorectal cancer is one of the common cancers. It has been confirmed that microsatellite instability (MSI) is one of the most important molecular changes in colorectal cancer. As the recognized precursor lesions of colorectal cancer, adenomas and some polyps also have MSI phenomenon. This article analyzes the MSI of colorectal cancer and its closely related adenomas and polyps in domestic and foreign literature, and further discusses how to identify colorectal cancer at an early stage and the impact of MSI on the prognosis and treatment of colorectal cancer.</abstract><keywords/></article-meta></front><body/><back><ref-list><ref id="B1" content-type="article"><label>1</label><element-citation publication-type="journal"><p>Sung H, Ferlay J, Siegel R L, et al., 2021, Global Cancer Statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA: A Cancer Journal for Clinicians, 71(3): 209-249.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B2" content-type="article"><label>2</label><element-citation publication-type="journal"><p>Siegel RL, Miller KD, Jemal A, 2020, Cancer Statistics. CA: A Cancer Journal for Clinicians, 70(1).</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B3" content-type="article"><label>3</label><element-citation publication-type="journal"><p>Araghi M, Soerjomataram I, Bardot A, et al., 2019, Changes in Colorectal Cancer Incidence in Seven High-Income Countries: A Population-Based Study. Lancet Gastroenterol Hepatol. 4: 511-518.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B4" content-type="article"><label>4</label><element-citation publication-type="journal"><p>Fearon ER, Vogelstein B. 1990, A Genetic Model for Colorectal Tumorigenesis. Cell. 61: 759–767.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B5" content-type="article"><label>5</label><element-citation publication-type="journal"><p>Okamoto K, Kitamura S, Kimura T, et al., 2016, Clinicopathological Characteristics of Serrated Polyps as Precursors to Colorectal Cancer: Current Status and Management. Journal of Gastroenterology &amp; Hepatology, 32(2): 358-367.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B6" content-type="article"><label>6</label><element-citation publication-type="journal"><p>Yuan L, Chi Y, Chen W, et al., 2015, Immunohistochemistry and Microsatellite Instability Analysis in Molecular Subtyping of Colorectal Carcinoma Based on Mismatch Repair Competency. Int J Clin Exp Med, 8(11): 20988-21000.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B7" content-type="article"><label>7</label><element-citation publication-type="journal"><p>Dabir PD, Bruggeling CE, Post RSVD, et al., 2019, Microsatellite Instability Screening in Colorectal Adenomas to Detect Lynch Syndrome Patients? A Systematic Review and Meta-analysis. European Journal of Human Genetics, 28: 277–286.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B8" content-type="article"><label>8</label><element-citation publication-type="journal"><p>Nojadeh JN, Sharif SB, Sakhinia E. 2018, Microsatellite Instability in Colorectal Cancer. EXCLI Journal, 17: 159-168.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B9" content-type="article"><label>9</label><element-citation publication-type="journal"><p>Angelika C, Dariusz W, Andrzej W, et al., 2017, Clinical Significance and Prognostic Relevance of Microsatellite Instability in Sporadic Colorectal Cancer Patients. International Journal of Molecular Sciences, 18(1): 107.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B10" content-type="article"><label>10</label><element-citation publication-type="journal"><p>Kloor M, von Knebel Doeberitz M, 2018, The Immune Biology of Microsatellite Unstable Cancer. Trends Cancer, 2(3): 121-133.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B11" content-type="article"><label>11</label><element-citation publication-type="journal"><p>Ozcan M, Janikovits J, von Knebel Doeberitz M, et al., 2018, Complex Pattern of Immune Evasion in MSI Colorectal Cancer. Oncoimmunology, 7(7): e1445453.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B12" content-type="article"><label>12</label><element-citation publication-type="journal"><p>Chen M, Chen Q, Zhou S, et al., 2018, Comparison of Microsatellite Status Detection Methods for Colorectal Cancer. Modern Oncology Medicine, 26(03): 0396-0400. (in Chinese)</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B13" content-type="article"><label>13</label><element-citation publication-type="journal"><p>Baudrin LG, Jean-François D, How-Kit A, 2018, Molecular and Computational Methods for the Detection of Microsatellite Instability in Cancer. Frontiers in Oncology, 8: 621.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B14" content-type="article"><label>14</label><element-citation publication-type="journal"><p>Pagin A, Zerimech F, Leclerc J, et al., 2013, Evaluation of a New Panel of Six Mononucleotide Repeat Markers for the Detection of DNA Mismatch Repair-Deficient Tumours. British Journal of Cancer, 108(10): 2079-2087.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B15" content-type="article"><label>15</label><element-citation publication-type="journal"><p>Yamamoto G, Takenoya T, Takahashi A, et al., 2021, Quantitative Evaluation of MSI Testing Using NGS Detects the Imperceptible Microsatellite Changed Caused by MSH6 Deficiency. Familial Cancer, 20(2): 137-143.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B16" content-type="article"><label>16</label><element-citation publication-type="journal"><p>Win AK, Young JP, Lindor NM, 2012, Colorectal and Other Cancer Risks for Carriers and Noncarriers from Families with a DNA Mismatch Repair Gene Mutation: A Prospective Cohort Study. J Clin Oncol, 30: 958–964.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B17" content-type="article"><label>17</label><element-citation publication-type="journal"><p>Dominguez-Valentin M, Sampson JR, Seppälä TT, et al., 2020, Cancer Risks by Gene, Age, and Gender in 6350 Carriers of Pathogenic Mismatch Repair Variants: Findings from the Prospective Lynch Syndrome Database. Genetics in Medicine, 22(1): 15-25.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B18" content-type="article"><label>18</label><element-citation publication-type="journal"><p>Edelstein DL, Axilbund JE, Baxter M, et al., 2011, Rapid Development of Colorectal Neoplasia in Patients with Lynch Syndrome. Clin Gastroenterol Hepatol, 9: 340–343.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B19" content-type="article"><label>19</label><element-citation publication-type="journal"><p>Goshayeshi L, Khooiee A, Ghaffarzadegan K, et al. 2017, Screening for Lynch Syndrome in Cases with Colorectal Carcinoma from Mashhad. Archives of Iranian Medicine, 20(6): 332-337.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B20" content-type="article"><label>20</label><element-citation publication-type="journal"><p>Tanaka M, Nakajima T, Sugano K, 2016, Mismatch Repair Deficiency in Lynch Syndrome-Associated Colorectal Adenomas is More Prevalent in Older Patients. Histopathology, 69: 322–328.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B21" content-type="article"><label>21</label><element-citation publication-type="journal"><p>Yurgelun MB, Goel A, Hornick JL, et al., 2012, Microsatellite Instability and DNA Mismatch Repair Protein Deficiency in Lynch Syndrome Colorectal Polyps. Cancer Prev Res (Phila), 5(4): 574–82.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B22" content-type="article"><label>22</label><element-citation publication-type="journal"><p>Kloor M, Huth C, Voigt AY, et al., 2012, Prevalence of Mismatch Repair?Deficient Crypt Foci in Lynch Syndrome: A Pathological Study. Lancet Oncol, 13: 598?606.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B23" content-type="article"><label>23</label><element-citation publication-type="journal"><p>Sekine S, Mori T, Ogawa R, et al., 2017, Mismatch Repair Deficiency Commonly Precedes Adenoma Formation in Lynch Syndrome-Associated Colorectal Tumorigenesis. Modern Pathology, 30(8): 1144-1151.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B24" content-type="article"><label>24</label><element-citation publication-type="journal"><p>Boland PM, Yurgelun MB, Boland CR, 2018, Recent Progress in Lynch Syndrome and Other Familial Colorectal Cancer Syndromes. CA: A Cancer Journal for Clinicians, 68(3): 217-231.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B25" content-type="article"><label>25</label><element-citation publication-type="journal"><p>Zhu FC, Pan D, Zhang H, et al., 2019, Single-Center Study of Lynch Syndrome Screening in Colorectal Polyps. Hereditary Cancer in Clinical Practice, 17(1): 1-5.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B26" content-type="article"><label>26</label><element-citation publication-type="journal"><p>Chang Li, Chang M, Chang HM, et al., 2017, Expending Role of Microsatellite Instability in Diagnosis and Treatment of Colorectal Cancers. Journal of Gastrointestinal Cancer, 48(4): 305-313.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B27" content-type="article"><label>27</label><element-citation publication-type="journal"><p>Sinicrope FA, 2018, Lynch Syndrome–Associated Colorectal Cancer. N Engl J Med, 379: 764-773.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B28" content-type="article"><label>28</label><element-citation publication-type="journal"><p>Vos JR, Fakkert IE, Spruijt L, et al., 2020, Evaluation of Yield and Experiences of Age?Related Molecular Investigation for Heritable and Nonheritable Causes of Mismatch Repair Deficient Colorectal Cancer to Identify Lynch Syndrome. International Journal of Cancer, 147(8): 2150-2158.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B29" content-type="article"><label>29</label><element-citation publication-type="journal"><p>Gong Q, Zhang HH, Sun SB, et al., 2018, Mismatch Repair-Deficient Status Associates with Favorable Prognosis of Eastern Chinese Population with Sporadic Colorectal Cancer. Oncology Letters, 15(5): 7007-7013.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B30" content-type="article"><label>30</label><element-citation publication-type="journal"><p>Gatalica Z, Vranic S, Xiu J, et al., 2016, High Microsatellite Instability (MSI-H) Colorectal Carcinoma: A Brief Review of Predictive Biomarkers in the Era of Personalized Medicine. Familial Cancer, 15(3): 405-412.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B31" content-type="article"><label>31</label><element-citation publication-type="journal"><p>Lochhead P, Kuchiba A, Imamura Y, et al., 2013, Microsatellite Instability and BRAF Mutation Testing in Colorectal Cancer Prognostication. J Natl Cancer Inst, 105: 1151–1166.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B32" content-type="article"><label>32</label><element-citation publication-type="journal"><p>Loughrey MB, Waring PM, Tan A, et al., 2007, Incorporation of Somatic BRAF Mutation Testing into an Algorithm for the Investigation of Hereditary Non-Polyposis Colorectal Cancer. Familial Cancer, 6(3): 301-310.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B33" content-type="article"><label>33</label><element-citation publication-type="journal"><p>Xiao B, Luo J, Xie E, et al., 2020, Comparisons of Screening Strategies for Identifying Lynch Syndrome among Patients with MLH1-Deficient Colorectal Cancer. European Journal of Human Genetics, 28(11): 1555-1562.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B34" content-type="article"><label>34</label><element-citation publication-type="journal"><p>Atef N, Alieldin N, Sherif G, et al., 2020, Microsatellite Instability and Life Style Factors in Sporadic Colorectal Cancer. Asian Pacific Journal of Cancer Prevention: APJCP, 21(5): 1471.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B35" content-type="article"><label>35</label><element-citation publication-type="journal"><p>Bai H, Wang R, Cheng W, et al., 2020, Evaluation of Concordance between Deficient Mismatch Repair and Microsatellite Instability Testing and Their Association with Clinicopathological Features in Colorectal Cancer. Cancer Management and Research, 12: 2863.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B36" content-type="article"><label>36</label><element-citation publication-type="journal"><p>Sinicrope FA, Shi Q, Allegra CJ, et al., 2017, Association of DNA Mismatch Repair and Mutations in BRAF and KRAS with Survival after Recurrence in Stage III Colon Cancers: A Secondary Analysis of 2 Randomized Clinical Trials. JAMA Oncol, 3: 472-80.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B37" content-type="article"><label>37</label><element-citation publication-type="journal"><p>Yamada R, Yamaguchi T, Iijima T, et al., 2018, Differences in Histological Features and PD-L1 Expression between Sporadic Microsatellite Instability and Lynch-Syndrome-Associated Disease in Japanese Patients with Colorectal Cancer. International Journal of Clinical Oncology, 23(3): 504-513.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B38" content-type="article"><label>38</label><element-citation publication-type="journal"><p>Okamoto K, Kitamura S, Kimura T, et al., 2017, Clinicopathological Characteristics of Serrated Polyps as Precursors to Colorectal Cancer: Current Status and Management. Journal of Gastroenterology &amp; Hepatology, 32(2): 358-367.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B39" content-type="article"><label>39</label><element-citation publication-type="journal"><p>Reveron D, Lopez C, Gutierrez S, et al., 2018, Frequency of Mismatch Repair Protein Deficiency in a Puerto Rican Population with Colonic Adenoma and Adenocarcinoma. Cancer Genom Proteom. 15: 265–71.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B40" content-type="article"><label>40</label><element-citation publication-type="journal"><p>Boland CR, Goel A. 2010, Microsatellite Instability in Colorectal Cancer. Gastroenterology, 138(6):2073-2087.e3.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B41" content-type="article"><label>41</label><element-citation publication-type="journal"><p>?ukasz S, Janiczek M, Popiel A, et al., 2015, Serrated Polyps and Their Alternative Pathway to the Colorectal Cancer: A Systematic Review. Gastroenterology Research and Practice, 2015: 573814.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B42" content-type="article"><label>42</label><element-citation publication-type="journal"><p>Petrelli F, Ghidini M, Cabiddu M, et al., 2019, Microsatellite Instability and Survival in Stage II Colorectal Cancer: A Systematic Review and Meta-analysis. Anticancer Research, 39(12): 6431-6441.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B43" content-type="article"><label>43</label><element-citation publication-type="journal"><p>Mohan HM, Ryan E, Balasubramanian I, et al., 2016, Microsatellite Instability is Associated with Reduced Disease Specific Survival in Stage III Colon Cancer. Eur J Surg Oncol, 42(11): 1680-1686.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B44" content-type="article"><label>44</label><element-citation publication-type="journal"><p>Fujiyoshi K, Yamamoto G, Takenoya T, et al., 2017, Metastatic Pattern of Stage IV Colorectal Cancer with High-Frequency Microsatellite Instability as a Prognostic Factor. Anticancer Research, 37(1): 239-248.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B45" content-type="article"><label>45</label><element-citation publication-type="journal"><p>Wood DE, 2015, National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines for Lung Cancer Screening. Thoracic Surgery Clinics, 25(2): 185-197.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B46" content-type="article"><label>46</label><element-citation publication-type="journal"><p>Webber EM, Kauffman TL, Elizabeth O, et al., 2015, Systematic Review of the Predictive Effect of MSI Status in Colorectal Cancer Patients Undergoing 5FU-Based Chemotherapy. BMC Cancer, 15: 156.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B47" content-type="article"><label>47</label><element-citation publication-type="journal"><p>Thomas ML, Hewett PJ, Ruszkiewicz AR, et al., 2015, Clinicopathological Predictors of Benefit from Adjuvant Chemotherapy for Stage C Colorectal Cancer: Microsatellite Unstable Cases Benefit. Asia Pacific Journal of Clinical Oncology, 11(4): 343-351.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B48" content-type="article"><label>48</label><element-citation publication-type="journal"><p>Losa NL, Cruise M, Tam A, et al., 2015, The Vigorous Immune Microenvironment of Microsatellite Instable Colon Cancer is Balanced by Multiple Counter-Inhibitory Checkpoints. Cancer Discov, 5(1): 43-51.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B49" content-type="article"><label>49</label><element-citation publication-type="journal"><p>Rotte A, 2019, Combination of CTLA-4 and PD-1 Blockers for Treatment of Cancer. Journal of Experimental, Clinical Cancer Research, 38(1): 255.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B50" content-type="article"><label>50</label><element-citation publication-type="journal"><p>Andre T, Shiu KK, Kim TW, et al., 2020, Pembrolizumab versus Chemotherapy for Microsatellite Instability-High/Mismatch Repair Deficient Metastatic Colorectal Cancer: The Phase 3 KEYNOTE-177 Study.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B51" content-type="article"><label>51</label><element-citation publication-type="journal"><p>Schrock AB, Ouyang C, Sandhu J, et al., 2019, Tumor Mutational Burden is Predictive of Response to Immune Checkpoint Inhibitors in MSI-High Metastatic Colorectal Cancer. Annals of Oncology, 30(7): 1096-1103.</p><pub-id pub-id-type="doi"/></element-citation></ref><ref id="B52" content-type="article"><label>52</label><element-citation publication-type="journal"><p>Fabrizio DA, George Jr TJ, Dunne RF, et al., 2018, Beyond Microsatellite Testing: Assessment of Tumor Mutational Burden Identifies Subsets of Colorectal Cancer Who May Respond to Immune Checkpoint Inhibition. Journal of Gastrointestinal Oncology, 9(4): 610.</p><pub-id pub-id-type="doi"/></element-citation></ref></ref-list></back></article>
