Olave MC, Graham RP. Mismatch repair deficiency: the what, how and why it is important. Genes Chromosomes Cancer. 2022;61(3):314–21. https://doi.org/10.1002/gcc.23015.

Article  CAS  PubMed  Google Scholar 

Veigl ML, Kasturi L, Olechnowicz J, Ma AH, Lutterbaugh JD, Periyasamy S, et al. Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. Proc Natl Acad Sci USA. 1998;95(15):8698–702. https://doi.org/10.1073/pnas.95.15.8698.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vilar E, Gruber SB. Microsatellite instability in colorectal cancer: the stable evidence. Nat Rev Clin Oncol. 2010;7(3):153–62. https://doi.org/10.1038/nrclinonc.2009.237.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352(18):1851–60. https://doi.org/10.1056/NEJMoa043146.

Article  CAS  PubMed  Google Scholar 

Parsons MT, Buchanan DD, Thompson B, Young JP, Spurdle AB, Hopper JL, et al. Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification. J Med Genet. 2012;49(3):151–7. https://doi.org/10.1136/jmedgenet-2011-100714.

Article  CAS  PubMed  Google Scholar 

Ryan NAJ, Glaire MA, Blake D, Cabrera-Dandy M, Evans DG, Crosbie EJ. The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis. Genet Med. 2019;21(10):2167–80. https://doi.org/10.1038/s41436-019-0536-8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cancer Genome Atlas Research Network, Kandoth C, Schultz N, Cherniack AD, Akbani R, Liu Y, et al. Integrated genomic characterization of endometrial carcinoma. Nature. 2013;497(7447):67–73. https://doi.org/10.1038/nature12113.

Article  CAS  Google Scholar 

Cancer Genome Atlas Network, Network TCGA, Kandoth C, Schultz N, Cherniack AD, Akbani R, et al. Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012;487(7407):330–7. https://doi.org/10.1038/nature11252.

Article  CAS  Google Scholar 

Wang Y, Shi C, Li X, Zhang Q, Chen J, Liu H, et al. Predicting prognosis and immunotherapy response in multiple cancers based on the association of PANoptosis-related genes with tumor heterogeneity. Genes (Basel). 2023;14(11):1994. https://doi.org/10.3390/genes14111994.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li K, Zhang L, Wang Y, Chen X, Liu H, Zhao J, et al. Microsatellite instability: a review of what the oncologist should know. Cancer Cell Int. 2020;20:16. https://doi.org/10.1186/s12935-019-1091-8.

Article  PubMed  PubMed Central  Google Scholar 

Sepulveda AR, Hamilton SR, Allegra CJ, Grody WW, Cushman-Vokoun AM, Funkhouser WK, et al. Molecular biomarkers for the evaluation of colorectal cancer: guideline from the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and the American Society of Clinical Oncology. J Clin Oncol. 2017;35(13):1453–86. https://doi.org/10.1200/JCO.2016.71.9807.

Article  CAS  PubMed  Google Scholar 

Sargent DJ, Marsoni S, Thibodeau SN, Labianca R, Hamilton SR, French AJ, et al. Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol. 2010;28(19):3219–26. https://doi.org/10.1200/JCO.2009.27.1825.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Diaz LA, Shiu KK, Kim TW, Jensen BV, Jensen LH, Punt C, et al. Pembrolizumab versus chemotherapy for microsatellite instability-high or mismatch repair-deficient metastatic colorectal cancer (KEYNOTE-177): final analysis of a randomised, open-label, phase 3 study. Lancet Oncol. 2022;23(5):659–70. https://doi.org/10.1016/S1470-2045(22)00197-8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

European Society of Gynaecological Oncology (ESGO). ESGO-ESTRO-ESP cervical cancer guidelines. Published May 1, 2023. https://guidelines.esgo.org. Accessed 31 Jan 2026.

Merck Sharp & Dohme LLC. Study of pembrolizumab (MK-3475) in participants with advanced solid tumors (KEYNOTE-158). ClinicalTrials.gov identifier: NCT02628067. Published December 17, 2015. Updated May 16, 2023. Available from: https://clinicaltrials.gov/study/NCT02628067. Accessed 5 Sept 2024.

GlaxoSmithKline. Study to evaluate the efficacy and safety of dostarlimab in combination with carboplatin-paclitaxel in participants with recurrent or primary advanced endometrial cancer (RUBY). ClinicalTrials.gov identifier: NCT03981796. Published June 11, 2019. Updated May 7, 2024. https://clinicaltrials.gov/study/NCT03981796. Accessed 5 Sept 2024.

GlaxoSmithKline. Study of dostarlimab (TSR-042) in participants with recurrent or advanced solid tumors (GARNET). ClinicalTrials.gov identifier: NCT02715284. Published March 14, 2016. Updated August 1, 2023. https://clinicaltrials.gov/study/NCT02715284. Accessed 5 Sept 2024.

Merck Sharp & Dohme LLC. Lenvatinib in combination with pembrolizumab in advanced endometrial cancer (Study 309/KEYNOTE-775). ClinicalTrials.gov identifier: NCT03517449. Published May 7, 2018. Updated July 25, 2023. https://clinicaltrials.gov/study/NCT03517449. Accessed 5 Sept 2024.

Oaknin A, Colombo N, Creutzberg C, Gressel GM, Harter P, Joly F, et al. Endometrial cancer: ESMO clinical practice guideline for diagnosis, treatment and follow-up. Ann Oncol. 2022;33(8):860–77. https://doi.org/10.1016/j.annonc.2022.05.009.

Article  CAS  PubMed  Google Scholar 

Ferguson J, Grothey A, Kerr D, Thibodeau S, Goldberg RM, Sargent DJ, et al. Immunohistochemistry (IHC) for MMR proteins: a reliable method for identifying mismatch repair deficiency in colorectal cancers. J Clin Oncol. 2014;32(1):33–45.

Google Scholar 

Luchini C, Bibeau F, Ligtenberg MJL, Bosse T, Miller K, La Rosa S, 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(8):1232–43. https://doi.org/10.1093/annonc/mdz116.

Article  CAS  PubMed  Google Scholar 

Ryan NAJ, McMahon R, Tobi S, Snowsill T, Evans DG, Crosbie EJ, et al. The proportion of endometrial tumours associated with Lynch syndrome (PETALS): a prospective cross-sectional study. PLoS Med. 2020;17(9):e1003263. https://doi.org/10.1371/journal.pmed.1003263.

Article  PubMed  PubMed Central  Google Scholar 

Chao X, Li L, Wu M, Wang Y, Zhang Q, Liu H, et al. Comparison of screening strategies for Lynch syndrome in patients with newly diagnosed endometrial cancer: a prospective cohort study in China. Cancer Commun (Lond). 2019;39(1):42. https://doi.org/10.1186/s40880-019-0388-2.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ukkola I, Nummela P, Pasanen A, Peltomäki P, Aaltonen LA, Vahteristo P, et al. Detection of microsatellite instability with Idylla MSI assay in colorectal and endometrial cancer. Virchows Arch. 2021;479(3):471–9. https://doi.org/10.1007/s00428-021-03082-w.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Siemanowski J, Schömig-Markiefka B, Buhl T, Stöhr R, Schauer S, Krüger S, et al. Managing difficulties of microsatellite instability testing in endometrial cancer: limitations and advantages of four different PCR-based approaches. Cancers (Basel). 2021;13(6):1268. https://doi.org/10.3390/cancers13061268.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gilson P, Levy J, Rouyer M, Demange J, Husson M, Bonnet C, et al. Evaluation of 3 molecular-based assays for microsatellite instability detection in formalin-fixed tissues of patients with endometrial and colorectal cancers. Sci Rep. 2020;10(1):16386. https://doi.org/10.1038/s41598-020-73421-5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sowter P, Maxwell P, Quek RGW, Speirs V, McVeigh T, Schömig-Markiefka B, et al. Detection of mismatch repair deficiency in endometrial cancer using the Newcastle MSI assay: concordance with IHC and significance of MSH6 status. Cancers (Basel). 2024;16(23):3970. https://doi.org/10.3390/cancers16233970.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Riedinger CJ, Esnakula A, Haight PJ, Suarez AA, Chen W, Gillespie J, et al. Characterization of mismatch-repair/microsatellite instability-discordant endometrial cancers. Cancer. 2024;130(3):385–99. https://doi.org/10.1002/cncr.35030.

Article  CAS  PubMed  Google Scholar 

Wang Y, Shi C, Eisenberg R, Vnencak-Jones CL. Differences in microsatellite instability profiles between endometrioid and colorectal cancers: a potential cause for false-negative results? J Mol Diagn. 2017;19(1):57–64. https://doi.org/10.1016/j.jmoldx.2016.07.008.

Article  CAS  PubMed  Google Scholar 

Wu X, Snir O, Rottmann D, Wong S, Buza N, Hui P. Minimal microsatellite shift in microsatellite instability high endometrial cancer: a significant pitfall in diagnostic interpretation. Mod Pathol. 2019;32(5):650–8.