{"doi":"10.1136/bmjonc-2024-000335","title":"Mismatch repair deficiency and microsatellite instability in urothelial carcinoma: a systematic review and meta-analysis","abstract":"Background: Mismatch repair deficiency (dMMR) and microsatellite instability-high (MSI-H) occur in a subset of cancers and have been shown to confer sensitivity to immune checkpoint inhibition (ICI); however, there is a lack of prospective data in urothelial carcinoma (UC). Methods and analysis: We performed a systematic review to estimate the prevalence of dMMR and MSI-H in UC, including survival and clinical outcomes. We searched for studies published up to 26 October 2022 in major scientific databases. We screened 1745 studies and included 110. Meta-analyses were performed if the extracted data were suitable. Results: The pooled weighted prevalences of dMMR in bladder cancer (BC) and upper tract UC (UTUC) were 2.30% (95% CI 1.12% to 4.65%) and 8.95% (95% CI 6.81% to 11.67%), respectively. The pooled weighted prevalences of MSI-H in BC and UTUC were 2.11% (95% CI 0.82% to 5.31%) and 8.36% (95% CI 5.50% to 12.53%), respectively. Comparing localised versus metastatic disease, the pooled weighted prevalences for MSI-H in BC were 5.26% (95% CI 0.86% to 26.12%) and 0.86% (95% CI 0.59% to 1.25%), respectively; and in UTUC, they were 18.04% (95% CI 13.36% to 23.91%) and 4.96% (95% CI 2.72% to 8.86%), respectively. Cumulatively, the response rate in dMMR/MSI-H metastatic UC treated with an ICI was 22/34 (64.7%) compared with 1/9 (11.1%) with chemotherapy. Conclusion: Both dMMR and MSI-H occur more frequently in UTUC than in BC. In UC, MSI-H occurs more frequently in localised disease than in metastatic disease. These biomarkers may predict sensitivity to ICI in metastatic UC and resistance to cisplatin-based chemotherapy.","journal":"BMJ Oncology","year":2024,"id":425043,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":20,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9377,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1019503,"name":"Giovanni Maria Iannantuono","orcid":"0000-0003-4161-6250","position":1,"is_corresponding":false},{"id":1169189,"name":"Saad Atiq","orcid":"0000-0002-1026-9017","position":2,"is_corresponding":false},{"id":1155814,"name":"Dilara Akbulut","orcid":"0000-0003-2288-9667","position":3,"is_corresponding":false},{"id":321283,"name":"Ninet Sinaii","orcid":"0000-0003-4045-1386","position":4,"is_corresponding":false},{"id":999946,"name":"Nicholas I. Simon","orcid":"0000-0003-1259-9201","position":5,"is_corresponding":false},{"id":237159,"name":"Abdul Rouf Banday","orcid":"0000-0002-1521-340X","position":6,"is_corresponding":false},{"id":699340,"name":"Salah Boudjadi","orcid":"0000-0002-0273-8696","position":7,"is_corresponding":false},{"id":218399,"name":"Sandeep Gurram","orcid":"0000-0002-6405-9269","position":8,"is_corresponding":false},{"id":636671,"name":"Talal El Zarif","orcid":"0000-0002-4507-2396","position":9,"is_corresponding":false},{"id":335058,"name":"Jonathan E. Rosenberg","orcid":"0000-0003-2637-4249","position":10,"is_corresponding":false},{"id":339667,"name":"Gisela Butera","orcid":"0000-0003-3976-0018","position":11,"is_corresponding":false},{"id":683836,"name":"Min Yuen Teo","orcid":"0000-0003-2511-6731","position":12,"is_corresponding":false},{"id":274683,"name":"Guru Sonpavde","orcid":"0000-0002-1010-9611","position":13,"is_corresponding":false},{"id":90753,"name":"Jonathan Coleman","orcid":"0000-0002-6428-7835","position":14,"is_corresponding":false},{"id":263625,"name":"Andrea B. Apolo","orcid":"0000-0001-9409-1836","position":15,"is_corresponding":false},{"id":890588,"name":"Elias Chandran","orcid":"0000-0002-0150-7765","position":0,"is_corresponding":true}],"reference_count":171,"raw_metadata":null,"created_at":"2026-07-19T01:58:26.927596Z","pmid":"39086924","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}