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Microsatellite Instability

MedGen UID:
182529
•Concept ID:
C0920269
•
Cell or Molecular Dysfunction
Synonym: Instability, Microsatellite

Definition

Genomic instability associated with the presence of hypermutability in specific genetic marker regions resulting from defective DNA mismatch repair. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrosatellite Instability

Professional guidelines

PubMed

Gastric Cancer, Version 2.2022, NCCN Clinical Practice Guidelines in Oncology.
Ajani JA, D'Amico TA, Bentrem DJ, Chao J, Cooke D, Corvera C, Das P, Enzinger PC, Enzler T, Fanta P, Farjah F, Gerdes H, Gibson MK, Hochwald S, Hofstetter WL, Ilson DH, Keswani RN, Kim S, Kleinberg LR, Klempner SJ, Lacy J, Ly QP, Matkowskyj KA, McNamara M, Mulcahy MF, Outlaw D, Park H, Perry KA, Pimiento J, Poultsides GA, Reznik S, Roses RE, Strong VE, Su S, Wang HL, Wiesner G, Willett CG, Yakoub D, Yoon H, McMillian N, Pluchino LA
J Natl Compr Canc Netw 2022 Feb;20(2):167-192. doi: 10.6004/jnccn.2022.0008. PMID: 35130500
Current treatment and recent progress in gastric cancer.
Joshi SS, Badgwell BD
CA Cancer J Clin 2021 May;71(3):264-279. Epub 2021 Feb 16 doi: 10.3322/caac.21657. PMID: 33592120Free PMC Article
Diagnosis and Treatment of Metastatic Colorectal Cancer: A Review.
Biller LH, Schrag D
JAMA 2021 Feb 16;325(7):669-685. doi: 10.1001/jama.2021.0106. PMID: 33591350

Recent clinical studies

Etiology

Neoadjuvant Immunotherapy for MSI-H/dMMR Locally Advanced Colorectal Cancer: New Strategies and Unveiled Opportunities.
Zhang X, Wu T, Cai X, Dong J, Xia C, Zhou Y, Ding R, Yang R, Tan J, Zhang L, Zhang Y, Wang Y, Dong C, Li Y
Front Immunol 2022;13:795972. Epub 2022 Mar 17 doi: 10.3389/fimmu.2022.795972. PMID: 35371084Free PMC Article
Microsatellite instability in Gastric Cancer: Between lights and shadows.
Puliga E, Corso S, Pietrantonio F, Giordano S
Cancer Treat Rev 2021 Apr;95:102175. Epub 2021 Mar 1 doi: 10.1016/j.ctrv.2021.102175. PMID: 33721595
The evolving role of microsatellite instability in colorectal cancer: A review.
Gelsomino F, Barbolini M, Spallanzani A, Pugliese G, Cascinu S
Cancer Treat Rev 2016 Dec;51:19-26. Epub 2016 Oct 27 doi: 10.1016/j.ctrv.2016.10.005. PMID: 27838401
Molecular pathological classification of colorectal cancer.
Müller MF, Ibrahim AE, Arends MJ
Virchows Arch 2016 Aug;469(2):125-34. Epub 2016 Jun 20 doi: 10.1007/s00428-016-1956-3. PMID: 27325016Free PMC Article
Microsatellite instability in colorectal cancer.
Boland CR, Goel A
Gastroenterology 2010 Jun;138(6):2073-2087.e3. doi: 10.1053/j.gastro.2009.12.064. PMID: 20420947Free PMC Article

Diagnosis

Neoadjuvant Immunotherapy for MSI-H/dMMR Locally Advanced Colorectal Cancer: New Strategies and Unveiled Opportunities.
Zhang X, Wu T, Cai X, Dong J, Xia C, Zhou Y, Ding R, Yang R, Tan J, Zhang L, Zhang Y, Wang Y, Dong C, Li Y
Front Immunol 2022;13:795972. Epub 2022 Mar 17 doi: 10.3389/fimmu.2022.795972. PMID: 35371084Free PMC Article
Mismatch repair deficiency: The what, how and why it is important.
Olave MC, Graham RP
Genes Chromosomes Cancer 2022 Jun;61(6):314-321. Epub 2021 Dec 9 doi: 10.1002/gcc.23015. PMID: 34837268
Endometrial cancer in Lynch syndrome.
Zhao S, Chen L, Zang Y, Liu W, Liu S, Teng F, Xue F, Wang Y
Int J Cancer 2022 Jan 1;150(1):7-17. Epub 2021 Sep 9 doi: 10.1002/ijc.33763. PMID: 34398969
Quantitative Proteomics of the Cancer Cell Line Encyclopedia.
Nusinow DP, Szpyt J, Ghandi M, Rose CM, McDonald ER 3rd, Kalocsay M, Jané-Valbuena J, Gelfand E, Schweppe DK, Jedrychowski M, Golji J, Porter DA, Rejtar T, Wang YK, Kryukov GV, Stegmeier F, Erickson BK, Garraway LA, Sellers WR, Gygi SP
Cell 2020 Jan 23;180(2):387-402.e16. doi: 10.1016/j.cell.2019.12.023. PMID: 31978347Free PMC Article
Microsatellite instability in colorectal cancer-the stable evidence.
Vilar E, Gruber SB
Nat Rev Clin Oncol 2010 Mar;7(3):153-62. Epub 2010 Feb 9 doi: 10.1038/nrclinonc.2009.237. PMID: 20142816Free PMC Article

Therapy

Pembrolizumab in Patients With Microsatellite Instability-High Advanced Endometrial Cancer: Results From the KEYNOTE-158 Study.
O'Malley DM, Bariani GM, Cassier PA, Marabelle A, Hansen AR, De Jesus Acosta A, Miller WH Jr, Safra T, Italiano A, Mileshkin L, Xu L, Jin F, Norwood K, Maio M
J Clin Oncol 2022 Mar 1;40(7):752-761. Epub 2022 Jan 6 doi: 10.1200/JCO.21.01874. PMID: 34990208Free PMC Article
Immunotherapy in colorectal cancer: current achievements and future perspective.
Fan A, Wang B, Wang X, Nie Y, Fan D, Zhao X, Lu Y
Int J Biol Sci 2021;17(14):3837-3849. Epub 2021 Sep 3 doi: 10.7150/ijbs.64077. PMID: 34671202Free PMC Article
Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.
André T, Shiu KK, Kim TW, Jensen BV, Jensen LH, Punt C, Smith D, Garcia-Carbonero R, Benavides M, Gibbs P, de la Fouchardiere C, Rivera F, Elez E, Bendell J, Le DT, Yoshino T, Van Cutsem E, Yang P, Farooqui MZH, Marinello P, Diaz LA Jr; KEYNOTE-177 Investigators
N Engl J Med 2020 Dec 3;383(23):2207-2218. doi: 10.1056/NEJMoa2017699. PMID: 33264544
Recent advances in Lynch syndrome.
Biller LH, Syngal S, Yurgelun MB
Fam Cancer 2019 Apr;18(2):211-219. doi: 10.1007/s10689-018-00117-1. PMID: 30627969Free PMC Article
Molecular pathological classification of colorectal cancer.
Müller MF, Ibrahim AE, Arends MJ
Virchows Arch 2016 Aug;469(2):125-34. Epub 2016 Jun 20 doi: 10.1007/s00428-016-1956-3. PMID: 27325016Free PMC Article

Prognosis

Pembrolizumab in Patients With Microsatellite Instability-High Advanced Endometrial Cancer: Results From the KEYNOTE-158 Study.
O'Malley DM, Bariani GM, Cassier PA, Marabelle A, Hansen AR, De Jesus Acosta A, Miller WH Jr, Safra T, Italiano A, Mileshkin L, Xu L, Jin F, Norwood K, Maio M
J Clin Oncol 2022 Mar 1;40(7):752-761. Epub 2022 Jan 6 doi: 10.1200/JCO.21.01874. PMID: 34990208Free PMC Article
Diagnosis and Treatment of Metastatic Colorectal Cancer: A Review.
Biller LH, Schrag D
JAMA 2021 Feb 16;325(7):669-685. doi: 10.1001/jama.2021.0106. PMID: 33591350
Triple-negative breast cancer: promising prognostic biomarkers currently in development.
Sukumar J, Gast K, Quiroga D, Lustberg M, Williams N
Expert Rev Anticancer Ther 2021 Feb;21(2):135-148. doi: 10.1080/14737140.2021.1840984. PMID: 33198517Free PMC Article
Durable Clinical Benefit With Nivolumab Plus Ipilimumab in DNA Mismatch Repair-Deficient/Microsatellite Instability-High Metastatic Colorectal Cancer.
Overman MJ, Lonardi S, Wong KYM, Lenz HJ, Gelsomino F, Aglietta M, Morse MA, Van Cutsem E, McDermott R, Hill A, Sawyer MB, Hendlisz A, Neyns B, Svrcek M, Moss RA, Ledeine JM, Cao ZA, Kamble S, Kopetz S, André T
J Clin Oncol 2018 Mar 10;36(8):773-779. Epub 2018 Jan 20 doi: 10.1200/JCO.2017.76.9901. PMID: 29355075
Classification and characterization of microsatellite instability across 18 cancer types.
Hause RJ, Pritchard CC, Shendure J, Salipante SJ
Nat Med 2016 Nov;22(11):1342-1350. Epub 2016 Oct 3 doi: 10.1038/nm.4191. PMID: 27694933

Clinical prediction guides

Molecular Characteristics, Clinical Significance, and Cancer Immune Interactions of Angiogenesis-Associated Genes in Gastric Cancer.
Qing X, Xu W, Liu S, Chen Z, Ye C, Zhang Y
Front Immunol 2022;13:843077. Epub 2022 Feb 22 doi: 10.3389/fimmu.2022.843077. PMID: 35273618Free PMC Article
Mismatch repair deficiency: The what, how and why it is important.
Olave MC, Graham RP
Genes Chromosomes Cancer 2022 Jun;61(6):314-321. Epub 2021 Dec 9 doi: 10.1002/gcc.23015. PMID: 34837268
Microsatellite instability in Gastric Cancer: Between lights and shadows.
Puliga E, Corso S, Pietrantonio F, Giordano S
Cancer Treat Rev 2021 Apr;95:102175. Epub 2021 Mar 1 doi: 10.1016/j.ctrv.2021.102175. PMID: 33721595
Crosstalk Between the MSI Status and Tumor Microenvironment in Colorectal Cancer.
Lin A, Zhang J, Luo P
Front Immunol 2020;11:2039. Epub 2020 Aug 12 doi: 10.3389/fimmu.2020.02039. PMID: 32903444Free PMC Article
Colorectal cancer tumour markers and biomarkers: Recent therapeutic advances.
Lech G, Słotwiński R, Słodkowski M, Krasnodębski IW
World J Gastroenterol 2016 Feb 7;22(5):1745-55. doi: 10.3748/wjg.v22.i5.1745. PMID: 26855534Free PMC Article

Recent systematic reviews

Treatment of Metastatic Colorectal Cancer: ASCO Guideline.
Morris VK, Kennedy EB, Baxter NN, Benson AB 3rd, Cercek A, Cho M, Ciombor KK, Cremolini C, Davis A, Deming DA, Fakih MG, Gholami S, Hong TS, Jaiyesimi I, Klute K, Lieu C, Sanoff H, Strickler JH, White S, Willis JA, Eng C
J Clin Oncol 2023 Jan 20;41(3):678-700. Epub 2022 Oct 17 doi: 10.1200/JCO.22.01690. PMID: 36252154Free PMC Article
Association of PD-L1 Expression and Other Variables With Benefit From Immune Checkpoint Inhibition in Advanced Gastroesophageal Cancer: Systematic Review and Meta-analysis of 17 Phase 3 Randomized Clinical Trials.
Yoon HH, Jin Z, Kour O, Kankeu Fonkoua LA, Shitara K, Gibson MK, Prokop LJ, Moehler M, Kang YK, Shi Q, Ajani JA
JAMA Oncol 2022 Oct 1;8(10):1456-1465. doi: 10.1001/jamaoncol.2022.3707. PMID: 36006624Free PMC Article
Adjuvant Therapy for Stage II Colon Cancer: ASCO Guideline Update.
Baxter NN, Kennedy EB, Bergsland E, Berlin J, George TJ, Gill S, Gold PJ, Hantel A, Jones L, Lieu C, Mahmoud N, Morris AM, Ruiz-Garcia E, You YN, Meyerhardt JA
J Clin Oncol 2022 Mar 10;40(8):892-910. Epub 2021 Dec 22 doi: 10.1200/JCO.21.02538. PMID: 34936379
ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach.
Luchini C, Bibeau F, Ligtenberg MJL, Singh N, Nottegar A, Bosse T, Miller R, Riaz N, Douillard JY, Andre F, Scarpa A
Ann Oncol 2019 Aug 1;30(8):1232-1243. doi: 10.1093/annonc/mdz116. PMID: 31056702
PD-L1 and gastric cancer prognosis: A systematic review and meta-analysis.
Gu L, Chen M, Guo D, Zhu H, Zhang W, Pan J, Zhong X, Li X, Qian H, Wang X
PLoS One 2017;12(8):e0182692. Epub 2017 Aug 10 doi: 10.1371/journal.pone.0182692. PMID: 28796808Free PMC Article

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