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Microsatellite instability-high colorectal cancer

MedGen UID:
1617570
•Concept ID:
C4544822
•
Neoplastic Process
Synonyms: dMMR colorectal cancer; Mismatch repair deficient colorectal cancer; MSI-H colorectal cancer
SNOMED CT: Mismatch repair deficient colorectal cancer (737058005); Microsatellite instability-high colorectal cancer (737058005); dMMR colorectal cancer (737058005); MSI-H colorectal cancer (737058005)

Professional guidelines

PubMed

Sustained Disease Control in Immune Checkpoint Blockade Responders with Microsatellite Instability-high Colorectal Cancer after Treatment Termination.
Simmons K, Thomas JV, Ludford K, Willis JA, Higbie VS, Raghav KPS, Johnson B, Dasari A, Kee BK, Parseghian CM, Lee MS, Le PH, Morelli MP, Shen JP, Bent A, Vilar E, Wolff RA, Kopetz S, Overman MJ, Morris VK
Cancer Res Commun 2023 Dec 11;3(12):2510-2517. doi: 10.1158/2767-9764.CRC-23-0340. PMID: 38085001Free PMC Article

Recent clinical studies

Etiology

Neoadjuvant camrelizumab plus apatinib for locally advanced microsatellite instability-high or mismatch repair-deficient colorectal cancer (NEOCAP): a single-arm, open-label, phase 2 study.
Yu JH, Xiao BY, Li DD, Jiang W, Ding Y, Wu XJ, Zhang RX, Lin JZ, Wang W, Han K, Kong LH, Zhang XK, Chen BY, Mei WJ, Pan ZZ, Tang JH, Zhang XS, Ding PR
Lancet Oncol 2024 Jul;25(7):843-852. Epub 2024 Jun 6 doi: 10.1016/S1470-2045(24)00203-1. PMID: 38852601
Sustained Disease Control in Immune Checkpoint Blockade Responders with Microsatellite Instability-high Colorectal Cancer after Treatment Termination.
Simmons K, Thomas JV, Ludford K, Willis JA, Higbie VS, Raghav KPS, Johnson B, Dasari A, Kee BK, Parseghian CM, Lee MS, Le PH, Morelli MP, Shen JP, Bent A, Vilar E, Wolff RA, Kopetz S, Overman MJ, Morris VK
Cancer Res Commun 2023 Dec 11;3(12):2510-2517. doi: 10.1158/2767-9764.CRC-23-0340. PMID: 38085001Free PMC Article
Mutations in Classical Signaling Pathways and Their Functional Impact in Microsatellite Instability High Colorectal Cancer.
Shi S, Gong Y, Li X, Ding Y, Song G, Liu H, Zhang Z
Genet Test Mol Biomarkers 2023 Mar;27(3):90-99. doi: 10.1089/gtmb.2022.0118. PMID: 36989521
Neoadjuvant PD-1 blockade with toripalimab, with or without celecoxib, in mismatch repair-deficient or microsatellite instability-high, locally advanced, colorectal cancer (PICC): a single-centre, parallel-group, non-comparative, randomised, phase 2 trial.
Hu H, Kang L, Zhang J, Wu Z, Wang H, Huang M, Lan P, Wu X, Wang C, Cao W, Hu J, Huang Y, Huang L, Wang H, Shi L, Cai Y, Shen C, Ling J, Xie X, Cai Y, He X, Dou R, Zhou J, Ma T, Zhang X, Luo S, Deng W, Ling L, Liu H, Deng Y
Lancet Gastroenterol Hepatol 2022 Jan;7(1):38-48. Epub 2021 Oct 22 doi: 10.1016/S2468-1253(21)00348-4. PMID: 34688374
PD-1 blockade in neoadjuvant setting of DNA mismatch repair-deficient/microsatellite instability-high colorectal cancer.
Liu DX, Li DD, He W, Ke CF, Jiang W, Tang JH, Kong LH, Li Y, Sui QQ, Xiao BY, Li WR, Hong ZG, Xu RH, Pan ZZ, Zhang XS, Ding PR
Oncoimmunology 2020;9(1):1711650. Epub 2020 Jan 22 doi: 10.1080/2162402X.2020.1711650. PMID: 32042474Free PMC Article

Diagnosis

Prognostic significance of negative lymph node count in microsatellite instability-high colorectal cancer.
Dai X, Dai Z, Fu J, Liang Z, Du P, Wu T
World J Surg Oncol 2024 Jul 19;22(1):186. doi: 10.1186/s12957-024-03469-4. PMID: 39030562Free PMC Article
Identification of MKI67, TPR , and TCHH Mutations as Prognostic Biomarkers for Patients With Defective Mismatch Repair Colon Cancer Stage II/III.
Lv J, Li W, Wang X, Guo L, Wang D, Zhang Y, Yu J, Chen T, Niu B, Wang X, Liu Z
Dis Colon Rectum 2023 Nov 1;66(11):1481-1491. Epub 2023 Aug 29 doi: 10.1097/DCR.0000000000002734. PMID: 37643197
Development of a liquid biopsy based purely quantitative digital droplet PCR assay for detection of MLH1 promoter methylation in colorectal cancer patients.
Wang D, O'Rourke D, Sanchez-Garcia JF, Cai T, Scheuenpflug J, Feng Z
BMC Cancer 2021 Jul 10;21(1):797. doi: 10.1186/s12885-021-08497-x. PMID: 34243735Free PMC Article
Subtyping of microsatellite instability-high colorectal cancer.
Hu W, Yang Y, Qi L, Chen J, Ge W, Zheng S
Cell Commun Signal 2019 Jul 22;17(1):79. doi: 10.1186/s12964-019-0397-4. PMID: 31331345Free PMC Article
Minimal microsatellite shift in microsatellite instability high endometrial cancer: a significant pitfall in diagnostic interpretation.
Wu X, Snir O, Rottmann D, Wong S, Buza N, Hui P
Mod Pathol 2019 May;32(5):650-658. Epub 2018 Nov 15 doi: 10.1038/s41379-018-0179-3. PMID: 30443012

Therapy

Neoadjuvant camrelizumab plus apatinib for locally advanced microsatellite instability-high or mismatch repair-deficient colorectal cancer (NEOCAP): a single-arm, open-label, phase 2 study.
Yu JH, Xiao BY, Li DD, Jiang W, Ding Y, Wu XJ, Zhang RX, Lin JZ, Wang W, Han K, Kong LH, Zhang XK, Chen BY, Mei WJ, Pan ZZ, Tang JH, Zhang XS, Ding PR
Lancet Oncol 2024 Jul;25(7):843-852. Epub 2024 Jun 6 doi: 10.1016/S1470-2045(24)00203-1. PMID: 38852601
Sustained Disease Control in Immune Checkpoint Blockade Responders with Microsatellite Instability-high Colorectal Cancer after Treatment Termination.
Simmons K, Thomas JV, Ludford K, Willis JA, Higbie VS, Raghav KPS, Johnson B, Dasari A, Kee BK, Parseghian CM, Lee MS, Le PH, Morelli MP, Shen JP, Bent A, Vilar E, Wolff RA, Kopetz S, Overman MJ, Morris VK
Cancer Res Commun 2023 Dec 11;3(12):2510-2517. doi: 10.1158/2767-9764.CRC-23-0340. PMID: 38085001Free PMC Article
Neoadjuvant PD-1 blockade with toripalimab, with or without celecoxib, in mismatch repair-deficient or microsatellite instability-high, locally advanced, colorectal cancer (PICC): a single-centre, parallel-group, non-comparative, randomised, phase 2 trial.
Hu H, Kang L, Zhang J, Wu Z, Wang H, Huang M, Lan P, Wu X, Wang C, Cao W, Hu J, Huang Y, Huang L, Wang H, Shi L, Cai Y, Shen C, Ling J, Xie X, Cai Y, He X, Dou R, Zhou J, Ma T, Zhang X, Luo S, Deng W, Ling L, Liu H, Deng Y
Lancet Gastroenterol Hepatol 2022 Jan;7(1):38-48. Epub 2021 Oct 22 doi: 10.1016/S2468-1253(21)00348-4. PMID: 34688374
Regorafenib Plus Nivolumab in Patients With Advanced Gastric or Colorectal Cancer: An Open-Label, Dose-Escalation, and Dose-Expansion Phase Ib Trial (REGONIVO, EPOC1603).
Fukuoka S, Hara H, Takahashi N, Kojima T, Kawazoe A, Asayama M, Yoshii T, Kotani D, Tamura H, Mikamoto Y, Hirano N, Wakabayashi M, Nomura S, Sato A, Kuwata T, Togashi Y, Nishikawa H, Shitara K
J Clin Oncol 2020 Jun 20;38(18):2053-2061. Epub 2020 Apr 28 doi: 10.1200/JCO.19.03296. PMID: 32343640
Nivolumab in patients with metastatic DNA mismatch repair-deficient or microsatellite instability-high colorectal cancer (CheckMate 142): an open-label, multicentre, phase 2 study.
Overman MJ, McDermott R, Leach JL, Lonardi S, Lenz HJ, Morse MA, Desai J, Hill A, Axelson M, Moss RA, Goldberg MV, Cao ZA, Ledeine JM, Maglinte GA, Kopetz S, André T
Lancet Oncol 2017 Sep;18(9):1182-1191. Epub 2017 Jul 19 doi: 10.1016/S1470-2045(17)30422-9. PMID: 28734759Free PMC Article

Prognosis

Immunotherapy in Colorectal Cancer - Finding the Achilles' Heel.
Park R, Saeed A
NEJM Evid 2024 Jun;3(6):EVIDra2300353. Epub 2024 May 28 doi: 10.1056/EVIDra2300353. PMID: 38804784
Sustained Disease Control in Immune Checkpoint Blockade Responders with Microsatellite Instability-high Colorectal Cancer after Treatment Termination.
Simmons K, Thomas JV, Ludford K, Willis JA, Higbie VS, Raghav KPS, Johnson B, Dasari A, Kee BK, Parseghian CM, Lee MS, Le PH, Morelli MP, Shen JP, Bent A, Vilar E, Wolff RA, Kopetz S, Overman MJ, Morris VK
Cancer Res Commun 2023 Dec 11;3(12):2510-2517. doi: 10.1158/2767-9764.CRC-23-0340. PMID: 38085001Free PMC Article
Subtyping of microsatellite instability-high colorectal cancer.
Hu W, Yang Y, Qi L, Chen J, Ge W, Zheng S
Cell Commun Signal 2019 Jul 22;17(1):79. doi: 10.1186/s12964-019-0397-4. PMID: 31331345Free PMC Article
Is There a Role for Programmed Death Ligand-1 Testing and Immunotherapy in Colorectal Cancer With Microsatellite Instability? Part II-The Challenge of Programmed Death Ligand-1 Testing and Its Role in Microsatellite Instability-High Colorectal Cancer.
Marginean EC, Melosky B
Arch Pathol Lab Med 2018 Jan;142(1):26-34. Epub 2017 Nov 9 doi: 10.5858/arpa.2017-0041-RA. PMID: 29120224
Nivolumab in patients with metastatic DNA mismatch repair-deficient or microsatellite instability-high colorectal cancer (CheckMate 142): an open-label, multicentre, phase 2 study.
Overman MJ, McDermott R, Leach JL, Lonardi S, Lenz HJ, Morse MA, Desai J, Hill A, Axelson M, Moss RA, Goldberg MV, Cao ZA, Ledeine JM, Maglinte GA, Kopetz S, André T
Lancet Oncol 2017 Sep;18(9):1182-1191. Epub 2017 Jul 19 doi: 10.1016/S1470-2045(17)30422-9. PMID: 28734759Free PMC Article

Clinical prediction guides

Neoadjuvant camrelizumab plus apatinib for locally advanced microsatellite instability-high or mismatch repair-deficient colorectal cancer (NEOCAP): a single-arm, open-label, phase 2 study.
Yu JH, Xiao BY, Li DD, Jiang W, Ding Y, Wu XJ, Zhang RX, Lin JZ, Wang W, Han K, Kong LH, Zhang XK, Chen BY, Mei WJ, Pan ZZ, Tang JH, Zhang XS, Ding PR
Lancet Oncol 2024 Jul;25(7):843-852. Epub 2024 Jun 6 doi: 10.1016/S1470-2045(24)00203-1. PMID: 38852601
Immunotherapy in Colorectal Cancer - Finding the Achilles' Heel.
Park R, Saeed A
NEJM Evid 2024 Jun;3(6):EVIDra2300353. Epub 2024 May 28 doi: 10.1056/EVIDra2300353. PMID: 38804784
Neoadjuvant PD-1 blockade with toripalimab, with or without celecoxib, in mismatch repair-deficient or microsatellite instability-high, locally advanced, colorectal cancer (PICC): a single-centre, parallel-group, non-comparative, randomised, phase 2 trial.
Hu H, Kang L, Zhang J, Wu Z, Wang H, Huang M, Lan P, Wu X, Wang C, Cao W, Hu J, Huang Y, Huang L, Wang H, Shi L, Cai Y, Shen C, Ling J, Xie X, Cai Y, He X, Dou R, Zhou J, Ma T, Zhang X, Luo S, Deng W, Ling L, Liu H, Deng Y
Lancet Gastroenterol Hepatol 2022 Jan;7(1):38-48. Epub 2021 Oct 22 doi: 10.1016/S2468-1253(21)00348-4. PMID: 34688374
Regorafenib Plus Nivolumab in Patients With Advanced Gastric or Colorectal Cancer: An Open-Label, Dose-Escalation, and Dose-Expansion Phase Ib Trial (REGONIVO, EPOC1603).
Fukuoka S, Hara H, Takahashi N, Kojima T, Kawazoe A, Asayama M, Yoshii T, Kotani D, Tamura H, Mikamoto Y, Hirano N, Wakabayashi M, Nomura S, Sato A, Kuwata T, Togashi Y, Nishikawa H, Shitara K
J Clin Oncol 2020 Jun 20;38(18):2053-2061. Epub 2020 Apr 28 doi: 10.1200/JCO.19.03296. PMID: 32343640
Is There a Role for Programmed Death Ligand-1 Testing and Immunotherapy in Colorectal Cancer With Microsatellite Instability? Part II-The Challenge of Programmed Death Ligand-1 Testing and Its Role in Microsatellite Instability-High Colorectal Cancer.
Marginean EC, Melosky B
Arch Pathol Lab Med 2018 Jan;142(1):26-34. Epub 2017 Nov 9 doi: 10.5858/arpa.2017-0041-RA. PMID: 29120224

Recent systematic reviews

Intrinsic resistance and efficacy of immunotherapy in microsatellite instability-high colorectal cancer: A systematic review and meta-analysis.
Wang R, Lian J, Wang X, Pang X, Xu B, Tang S, Shao J, Lu H
Biomol Biomed 2023 Mar 16;23(2):198-208. doi: 10.17305/bjbms.2022.8286. PMID: 36408953Free PMC Article
The prognostic and predictive impact of BRAF mutations in deficient mismatch repair/microsatellite instability-high colorectal cancer: systematic review/meta-analysis.
Park R, Lopes L, Lee S, Riano I, Saeed A
Future Oncol 2021 Nov;17(31):4221-4231. Epub 2021 Jul 29 doi: 10.2217/fon-2021-0552. PMID: 34323124

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