2022, Number 2
<< Back Next >>
Rev Med UAS 2022; 12 (2)
Microsatellites instability as a biological marker for the administration of Pembrolizumab
Fernández-Galindo MA, Moreno-Ortiz JM, Contreras-Gutiérrez JA, Martínez-Félix JI, Guerrero-Valdez M, Beltrán-Ontiveros SA
Language: Spanish
References: 40
Page: 135-142
PDF size: 263.96 Kb.
ABSTRACT
Microsatellites are short tandem repeating DNA sequences, distributed within the genome, that are prone to replication errors. The mismatch repair system (MMR) is responsible for identifying, signaling, and repairing mismatched bases, primarily in repetitive DNA sequences. Inactivation of any of the genes that encode MMR proteins can cause changes in the length of the microsatellites, and like a consequence a hypermutable phenotype known as microsatellite instability (MSI), a well-established tumorigenesis pathway related to the appearance, progression, and prognosis of various malignant neoplasms. Due to the large number of somatic mutations, MSI tumors are more sensitive to immunotherapy. The FDA has approved a monoclonal antibody as a treatment for pediatric and adult patients with MSI solid tumors, which has demonstrated robust and long-lasting antitumor activity and a manageable safety profile against various advanced malignancies.
REFERENCES
Yuza K, Nagahashi M, Watanabe S, Takabe K, Wakai T. Hypermutation and microsate-llite instability in gastrointestinal cancers. Oncotarget. 2017;8(67):112103-112115. Published 2017 Dec 1. doi:10.18632/onco-target.22783
De' Angelis GL, Bottarelli L, Azzoni C, De´Angelis N, Leandro G, Di Mario F, et al. Microsatellite instability in colorectal cancer. Acta Biomed. 2018;89(9-S):97-101. Publis-hed 2018 Dec 17. doi:10.23750/abm.v89i9-S.7960
Kim DG, An JY, Kim H, Shin SJ, Choi S, Seo WJ, et al. Clinical Implications of Microsate-llite Instability in Early Gastric Cancer. J Gas-tric Cancer. 2019;19(4):427-437. doi:10.5230/jgc.2019.19.e38
Jiricny J. Postreplicative mismatch repair. Cold Spring Harb Perspect Biol. 2013;5(4):a012633. Published 2013 Apr 1. doi:10.1101/cshperspect.a012633
Ratti M, Lampis A, Hahne JC, Passalacqua R, Valeri N. Microsatellite instability in gastric cancer: molecular bases, clinical perspecti-ves, and new treatment approaches. Cell Mol Life Sci. 2018;75(22):4151-4162. doi:10.1007/s00018-018-2906-9
Yuza K, Nagahashi M, Watanabe S, Takabe K, Wakai T. Hypermutation and microsate-llite instability in gastrointestinal cancers. Oncotarget. 2017;8(67):112103-112115. Published 2017 Dec 1. doi:10.18632/onco-target.22783
Yang G, Zheng RY, Jin ZS. Correlations bet-ween microsatellite instability and the biolo-gical behaviour of tumours. J Cancer Res Clin Oncol. 2019;145(12):2891-2899. doi:10.1007/s00432-019-03053-4
Salipante SJ, Scroggins SM, Hampel HL, Turner EH, Pritchard CC. Microsatellite ins-tability detection by next generation sequen-cing. Clin Chem. 2014;60(9):1192-1199. doi:10.1373/clinchem.2014.223677
Yamamoto H, Imai K. Microsatellite instabi-lity: an update. Arch Toxicol. 2015;89(6):899-921. doi:10.1007/s00204-015-1474-0
Choi YY, Bae JM, An JY, Kwong IG, Cho I, Shin HB, et al. Is microsatellite instability a prognostic marker in gastric cancer? A sys-tematic review with meta-analysis. J Surg Oncol. 2014;110(2):129-135. doi:10.1002/jso.23618
Smyth EC, Wotherspoon A, Peckitt C, Gon-zalez D, Hulkki-Wilson S, Eltahir Z, et al. Mis-match Repair Deficiency, Microsatellite Ins-tability, and Survival: An Exploratory Analysis of the Medical Research Council Adjuvant Gastric Infusional Chemotherapy (MAGIC) Trial. JAMA Oncol. 2017;3(9):1197-1203. doi:10.1001/jamaon-col.2016.6762
de la Chapelle A, Hampel H. Clinical rele-vance of microsatellite instability in colorec-tal cancer. J Clin Oncol. 2010;28(20):3380-3387. doi:10.1200/JCO.2009.27.0652
Yan L, Zhang W. Precision medicine beco-mes reality-tumor type-agnostic therapy. Cancer Commun (Lond). 2018;38(1):6. Pu-blished 2018 Mar 31. doi:10.1186/s40880-018-0274-3
Hause RJ, Pritchard CC, Shendure J, Sali-pante SJ. Classification and characterization of microsatellite instability across 18 cancer types [published correction appears in Nat Med. 2017 Oct 6;23 (10 ):1241] [published correction appears in Nat Med. 2018 Apr 10;24(4):525]. Nat Med. 2016;22(11):1342-1350. doi:10.1038/nm.4191
Seo HM, Chang YS, Joo SH, Kim YW, Park YK, Hong SW, et al. Clinicopathologic cha-racteristics and outcomes of gastric cancers with the MSI-H phenotype. J Surg Oncol. 2009;99(3):143-147. doi:10.1002/jso.21220
Murphy MA, Wentzensen N. Frequency of mismatch repair deficiency in ovarian can-cer: a systematic review. This article is a US Government work and, as such, is in the pu-blic domain of the United States of America. Int J Cancer. 2011;129(8):1914-1922. doi:10.1002/ijc.25835
Sohn BH, Hwang JE, Jang HJ, Lee HS, Oh SC, Shim JJ, et al. Clinical Significance of Four Molecular Subtypes of Gastric Cancer Identified by The Cancer Genome Atlas Pro-ject. Clin Cancer Res. 2017;23(15):4441-4449. doi:10.1158/1078-0432.CCR-16-2211
Janjigian YY, Sanchez-Vega F, Jonsson P, Chatila WK, Hechtman JF, Ku GY, et al. Ge-netic Predictors of Response to Systemic Therapy in Esophagogastric Cancer. Cancer Discov. 2018;8(1):49-58. doi:10.1158/2159-8290.CD-17-0787
Agostini M, Enzo MV, Morandi L. A ten mar-kers panel provides a more accurate and complete microsatellite instability analysis in mismatch repair-deficient colorectal tumors. Cancer Biomark. 2010;6(1):49-61. doi:10.3233/CBM-2009-0118
Haghighi MM, Javadi GR, Parivar K. Fre-quent MSI mononucleotide markers for diag-nosis of hereditary nonpolyposis colorectal cancer. Asian Pac J Cancer Prev. 2010;11(4):1033-1035
Suraweera N, Duval A, Reperant M. Evalua-tion of tumor microsatellite instability using five quasimonomorphic mononucleotide re-peats and pentaplex PCR. Gastroenterol. 2002;123(6):1804-1811. doi:10.1053/gast.2002.37070
Buhard O, Suraweera N, Lectard A, Duval A, Hamelin R. Quasimonomorphic mononu-cleotide repeats for high-level microsatellite instability analysis. Dis Markers. 2004;20(4-5):251-257. doi:10.1155/2004/159347
Buhard O, Cattaneo F, Wong YF. Multipopu-lation analysis of polymorphisms in five mo-nonucleotide repeats used to determine the microsatellite instability status of human tu-mors. J Clin Oncol. 2006;24(2):241-251. doi:10.1200/JCO.2005.02.7227
Goel A, Nagasaka T, Hamelin R, Boland CR. An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers [published correction appears in PLoS One. 2010;5(3). doi: 10.1371/annota-tion/572bb6d3-0315-40b1-a6d7-ce818809b5ea]. PLoS One. 2010;5(2):e9393. Published 2010 Feb 24. doi:10.1371/journal.pone.0009393
Luchini C, Bibeau F, Ligtenberg MJL. ESMO recommendations on microsatellite instabi-lity testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach. Ann Oncol. 2019;30(8):1232-1243. doi:10.1093/an-nonc/mdz116
Marcus L, Lemery SJ, Keegan P, Pazdur R. FDA Approval Summary: Pembrolizumab for the Treatment of Microsatellite Instability-High Solid Tumors. Clin Cancer Res. 2019;25(13):3753-3758. doi:10.1158/1078-0432.CCR-18-4070
Kok M, Chalabi M, Haanen J. How I treat MSI cancers with advanced disease. ESMO Open. 2019;4(Suppl 2):e000511. Published 2019 May 21. doi:10.1136/esmoopen-2019-000511
Kwok G, Yau TC, Chiu JW, Tse E, Kwong YL. Pembrolizumab (Keytruda). Hum Vaccin Immunother. 2016;12(11):2777-2789. doi:10.1080/21645515.2016.1199310
McDermott J, Jimeno A. Pembrolizumab: PD-1 inhibition as a therapeutic strategy in cancer. Drugs Today (Barc). 2015;51(1):7-20. doi:10.1358/dot.2015.51.1.2250387
Selvajaran G. Pembrolizumab: The Nut Cra-cker. Indian J Med Paediatric Oncology. 2020;41(3):393-396. doi:10.4103/ijmpo.ijmpo_37_20
Gokare P, Lulla AR, El-Deiry WS. MMR-de-ficiency and BRCA2/EGFR/NTRK muta-tions. Aging (Albany NY). 2017;9(8):1849-1850. doi:10.18632/aging.101275
Medina PJ, Adams VR. PD-1 Pathway Inhi-bitors: Immuno-Oncology Agents for Resto-ring Antitumor Immune Responses. Pharma-cotherapy. 2016;36(3):317-334. doi:10.1002/phar.1714
van Vugt MJH, Stone JA, De Greef RHJMM, Snyder ES, Lipka L, Turner DC, et al. Im-munogenicity of pembrolizumab in patients with advanced tumors. J Immunother Can-cer. 2019;7(1):212. Published 2019 Aug 8. doi:10.1186/s40425-019-0663-4
Chang L, Chang M, Chang HM, Chang F. Mi-crosatellite Instability: A Predictive Biomar-ker for Cancer Immunotherapy. Appl Im-munohistochem Mol Morphol. 2018;26(2):e15-e21. doi:10.1097/PAI.0000000000000575
Sidaway P. MSI-H: a truly agnostic biomar-ker?. Nat Rev Clin Oncol. 2020;17(2):68. doi:10.1038/s41571-019-0310-5
Freshwater T, Kondic A, Ahamadi M, Li CH, de Greef R, de Alwis D, et al. Evaluation of dosing strategy for pembrolizumab for onco-logy indications. J Immunother Cancer. 2017;5:43. Published 2017 May 16. doi:10.1186/s40425-017-0242-5
Goodman AM, Sokol ES, Frampton GM, Li-ppman SM, Kurzrock R. Microsatellite-Sta-ble Tumors with High Mutational Burden Benefit from Immunotherapy. Cancer Im-munol Res. 2019;7(10):1570-1573. doi:10.1158/2326-6066.CIR-19-0149
Duffy MJ, Crown J. Biomarkers for Predic-ting Response to Immunotherapy with Im-mune Checkpoint Inhibitors in Cancer Pa-tients. Clin Chem. 2019;65(10):1228-1238. doi:10.1373/clinchem.2019.303644
Rüschoff J, Baretton G, Bläker. MSI testing : What's new? What should be considered?. MSI-Testung : Was ist neu? Was ist zu beachten?. Pathologe. 2021;42(Suppl 1):110-118. doi:10.1007/s00292-021-00948-3
Yamamoto H, Imai K. An updated review of microsatellite instability in the era of next-ge-neration sequencing and precision medicine. Semin Oncol. 2019;46(3):261-270. doi:10.1053/j.seminoncol.2019.08.003