Acknowledgement
This work was supported by the Technology development Program (S2638360) funded by the Ministry of SMEs and Startups (MSS, Korea).
References
- Vilar E, Gruber SB. Microsatellite instability in colorectal cancer-the stable evidence. Nat Rev Clin Oncol 2010;7:153-162. https://doi.org/10.1038/nrclinonc.2009.237
- Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012;487:330-337. https://doi.org/10.1038/nature11252
- Latham A, Srinivasan P, Kemel Y, Shia J, Bandlamudi C, Mandelker D, et al. Microsatellite Instability Is associated with the presence of lynch syndrome pan-cancer. J Clin Oncol 2019;37:286-295. https://doi.org/10.1200/JCO.18.00283
- Cancer Genome Atlas Research Network. Comprehensive molecular characterization of gastric adenocarcinoma. Nature 2014;513:202-209. https://doi.org/10.1038/nature13480
- Leung SY, Yuen ST, Chung LP, Chu KM, Chan AS, Ho JC. hMLH1 promoter methylation and lack of hMLH1 expression in sporadic gastric carcinomas with high-frequency microsatellite instability. Cancer Res 1999;59:159-164.
- Kim SY, Choi YY, An JY, Shin HB, Jo A, Choi H, et al. The benefit of microsatellite instability is attenuated by chemotherapy in stage II and stage III gastric cancer: results from a large cohort with subgroup analyses. Int J Cancer 2015;137:819-825. https://doi.org/10.1002/ijc.29449
- Choi YY, Kim H, Shin SJ, Kim HY, Lee J, Yang HK, et al. Microsatellite instability and programmed cell death-ligand 1 expression in stage II/III gastric cancer: post hoc analysis of the CLASSIC randomized controlled study. Ann Surg 2019;270:309-316. https://doi.org/10.1097/SLA.0000000000002803
- Le DT, Durham JN, Smith KN, Wang H, Bartlett BR, Aulakh LK, et al. Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science 2017;357:409-413. https://doi.org/10.1126/science.aan6733
- Hargadon KM, Johnson CE, Williams CJ. Immune checkpoint blockade therapy for cancer: an overview of FDA-approved immune checkpoint inhibitors. Int Immunopharmacol 2018;62:29-39. https://doi.org/10.1016/j.intimp.2018.06.001
- Shia J. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn 2008;10:293-300. https://doi.org/10.2353/jmoldx.2008.080031
- Luchini C, Bibeau F, Ligtenberg MJ, Singh N, Nottegar A, Bosse T, et al. 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. Ann Oncol 2019;30:1232-1243. https://doi.org/10.1093/annonc/mdz116
- Hissong E, Crowe EP, Yantiss RK, Chen YT. Assessing colorectal cancer mismatch repair status in the modern era: a survey of current practices and re-evaluation of the role of microsatellite instability testing. Mod Pathol 2018;31:1756-1766. https://doi.org/10.1038/s41379-018-0094-7
- Lee HS, Choi SI, Lee HK, Kim HS, Yang HK, Kang GH, et al. Distinct clinical features and outcomes of gastric cancers with microsatellite instability. Mod Pathol 2002;15:632-640. https://doi.org/10.1038/modpathol.3880578
- Bae YS, Kim H, Noh SH, Kim H. Usefulness of immunohistochemistry for microsatellite instability screening in gastric cancer. Gut Liver 2015;9:629-635. https://doi.org/10.5009/gnl15133
- Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-268. https://doi.org/10.1093/jnci/djh034
- Watkins JC, Nucci MR, Ritterhouse LL, Howitt BE, Sholl LM. Unusual mismatch repair immunohistochemical patterns in endometrial carcinoma. Am J Surg Pathol 2016;40:909-916. https://doi.org/10.1097/PAS.0000000000000663
- Sari A, Pollett A, Eiriksson LR, Lumsden-Johanson B, Van de Laar E, Kazerouni H, et al. Interobserver agreement for mismatch repair protein immunohistochemistry in endometrial and nonserous, nonmucinous ovarian carcinomas. Am J Surg Pathol 2019;43:591-600. https://doi.org/10.1097/PAS.0000000000001220
- Hause RJ, Pritchard CC, Shendure J, Salipante SJ. Classification and characterization of microsatellite instability across 18 cancer types. Nat Med 2016;22:1342-1350. https://doi.org/10.1038/nm.4191
- Cristescu R, Lee J, Nebozhyn M, Kim KM, Ting JC, Wong SS, et al. Molecular analysis of gastric cancer identifies subtypes associated with distinct clinical outcomes. Nat Med 2015;21:449-456. https://doi.org/10.1038/nm.3850
- Klarskov L, Holck S, Bernstein I, Okkels H, Rambech E, Baldetorp B, et al. Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function. Am J Surg Pathol 2011;35:1391-1399. https://doi.org/10.1097/PAS.0b013e318225c3f0
- Pino MS, Chung DC. Microsatellite instability in the management of colorectal cancer. Expert Rev Gastroenterol Hepatol 2011;5:385-399. https://doi.org/10.1586/egh.11.25
- Chapusot C, Martin L, Puig PL, Ponnelle T, Cheynel N, Bouvier AM, et al. What is the best way to assess microsatellite instability status in colorectal cancer? Study on a population base of 462 colorectal cancers. Am J Surg Pathol 2004;28:1553-1559. https://doi.org/10.1097/00000478-200412000-00002
- Tachon G, Frouin E, Karayan-Tapon L, Auriault ML, Godet J, Moulin V, et al. Heterogeneity of mismatch repair defect in colorectal cancer and its implications in clinical practice. Eur J Cancer 2018;95:112-116. https://doi.org/10.1016/j.ejca.2018.01.087
- Joost P, Veurink N, Holck S, Klarskov L, Bojesen A, Harbo M, et al. Heterogenous mismatch-repair status in colorectal cancer. Diagn Pathol 2014;9:126.
- Jaffrelot M, Fares N, Brunac AC, Laurenty AP, Danjoux M, Grand D, et al. An unusual phenotype occurs in 15% of mismatch repair-deficient tumors and is associated with non-colorectal cancers and genetic syndromes. Mod Pathol 2022;35:427-437. https://doi.org/10.1038/s41379-021-00918-3
- Klarskov L, Ladelund S, Holck S, Roenlund K, Lindebjerg J, Elebro J, et al. Interobserver variability in the evaluation of mismatch repair protein immunostaining. Hum Pathol 2010;41:1387-1396. https://doi.org/10.1016/j.humpath.2010.03.003
- Cohen R, Hain E, Buhard O, Guilloux A, Bardier A, Kaci R, et al. Association of primary resistance to immune checkpoint inhibitors in metastatic colorectal cancer with misdiagnosis of microsatellite instability or mismatch repair deficiency status. JAMA Oncol 2019;5:551-555. https://doi.org/10.1001/jamaoncol.2018.4942
- Xicola RM, Llor X, Pons E, Castells A, Alenda C, Pinol V, et al. Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors. J Natl Cancer Inst 2007;99:244-252. https://doi.org/10.1093/jnci/djk033