Bateman AC (2021) DNA mismatch repair proteins: scientific update and practical guide. J Clin Pathol 74(4):264–268. https://doi.org/10.1136/jclinpath-2020-207281

Article  CAS  PubMed  Google Scholar 

Le DT, Uram JN, Wang H, Bartlett BR, Kemberling H, Eyring AD, Skora AD, Luber BS, Azad NS, Laheru D, Biedrzycki B, Donehower RC, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Duffy SM, Goldberg RM, de la Chapelle A, Koshiji M, Bhaijee F, Huebner T, Hruban RH, Wood LD, Cuka N, Pardoll DM, Papadopoulos N, Kinzler KW, Zhou S, Cornish TC, Taube JM, Anders RA, Eshleman JR, Vogelstein B, Diaz LA Jr (2015) PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med 372(26):2509–2520. https://doi.org/10.1056/NEJMoa1500596

Article  CAS  PubMed  PubMed Central  Google Scholar 

Le DT, Durham JN, Smith KN, Wang H, Bartlett BR, Aulakh LK, Lu S, Kemberling H, Wilt C, Luber BS, Wong F, Azad NS, Rucki AA, Laheru D, Donehower R, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Greten TF, Duffy AG, Ciombor KK, Eyring AD, Lam BH, Joe A, Kang SP, Holdhoff M, Danilova L, Cope L, Meyer C, Zhou S, Goldberg RM, Armstrong DK, Bever KM, Fader AN, Taube J, Housseau F, Spetzler D, Xiao N, Pardoll DM, Papadopoulos N, Kinzler KW, Eshleman JR, Vogelstein B, Anders RA, Diaz LA Jr (2017) Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science 357(6349):409–413. https://doi.org/10.1126/science.aan6733

Article  CAS  PubMed  PubMed Central  Google Scholar 

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 (2020) Pembrolizumab in microsatellite-instability-high advanced colorectal cancer. N Engl J Med 383(23):2207–2218. https://doi.org/10.1056/NEJMoa2017699

Article  PubMed  Google Scholar 

Maio M, Ascierto PA, Manzyuk L, Motola-Kuba D, Penel N, Cassier PA, Bariani GM, De Jesus AA, Doi T, Longo F, Miller WH, Oh DY, Gottfried M, Xu L, Jin F, Norwood K, Marabelle A (2022) Pembrolizumab in microsatellite instability high or mismatch repair deficient cancers: updated analysis from the phase II KEYNOTE-158 study. Ann Oncol 33(9):929–938. https://doi.org/10.1016/j.annonc.2022.05.519

Article  CAS  PubMed  Google Scholar 

Nagakawa S, Shiota M, Takamatsu D, Tsukahara S, Mastumoto T, Blas L, Inokuchi J, Oda Y, Eto M (2024) Clinical features and oncological outcomes of bladder cancer microsatellite instability. Int J Urol 31(4):438–445. https://doi.org/10.1111/iju.15370

Article  CAS  PubMed  Google Scholar 

Bakaloudi DR, Talukder R, Makrakis D, Diamantopoulos L, Enright T, Leary JB, Patgunarajah U, Thomas VM, Swami U, Agarwal N, Jindal T, Koshkin VS, Brown JR, Barata P, Murgić J, Miletić M, Johnson J, Zakharia Y, Hui G, Drakaki A, Duran I, Buznego LA, Barrera RM, Castañeda DM, Rey-Cárdenas M, Castellano D, Nguyen CB, Park JJ, Alva A, McKay RR, Stewart TF, Epstein IB, Bellmunt J, Wright JL, Gupta S, Grivas P, Khaki AR (2024) Association of tumor mutational burden and microsatellite instability with response and outcomes in patients with urothelial carcinoma treated with immune checkpoint inhibitor. Clin Genitourin Cancer 22(6):102198. https://doi.org/10.1016/j.clgc.2024.102198

Article  PubMed  Google Scholar 

Castro MP, Goldstein N (2015) Mismatch repair deficiency associated with complete remission to combination programmed cell death ligand immune therapy in a patient with sporadic urothelial carcinoma: immunotheranostic considerations. J Immunother Cancer 3:58. https://doi.org/10.1186/s40425-015-0104-y

Article  PubMed  PubMed Central  Google Scholar 

Feng Y, Cao Y, Yuan M, Chen R, Ji X, Hu X (2019) Different responses to anti-programmed cell death protein 1 (PD-1) immunotherapy in a patient with Lynch syndrome and metachronous urothelial and colon cancer: a case report. Oncol Lett 18(5):5085–5090. https://doi.org/10.3892/ol.2019.10909

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yang Y, Jain RK, Glenn ST, Xu B, Singh PK, Wei L, Hu Q, Long M, Hutson N, Wang J, Battaglia S, George S (2020) Complete response to anti-PD-L1 antibody in a metastatic bladder cancer associated with novel MSH4 mutation and microsatellite instability. J Immunother Cancer 8(1):e000128. https://doi.org/10.1136/jitc-2019-000128

Article  PubMed  PubMed Central  Google Scholar 

Mancuso JG, Foulkes WD, Pollak MN (2020) Cancer immunoprevention: a case report raising the possibility of “immuno-interception.” Cancer Prev Res (Phila) 13(4):351–356. https://doi.org/10.1158/1940-6207.CAPR-19-0528

Article  PubMed  Google Scholar 

Lindner AK, Schachtner G, Tulchiner G, Thurnher M, Untergasser G, Obrist P, Pipp I, Steinkohl F, Horninger W, Culig Z, Pichler R (2021) Lynch syndrome: its impact on urothelial carcinoma. Int J Mol Sci 22(2):531. https://doi.org/10.3390/ijms22020531

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yhim HY, Jeon SY, Lee CH, Lee NR (2022) Bilateral pleural effusion associated with atezolizumab in a patient with Lynch syndrome-related urothelial carcinoma: a case report. Ann Palliat Med 11(6):2162–2169. https://doi.org/10.21037/apm-21-1148

Article  PubMed  Google Scholar 

Shang Z, Jin S, Wang W, Wei Y, Gu C, Yang C, Zhu Y, Zhu Y, Shen Y, Wu J, Ye D (2022) Clinicopathological characteristics and loss of mismatch repair protein expression in Chinese upper tract urothelial carcinomas. Front Oncol 12:1012168. https://doi.org/10.3389/fonc.2022.1012168

Article  CAS  PubMed  PubMed Central  Google Scholar 

Oki R, Urasaki T, Ueki A, Inamura K, Komai Y, Takahashi S, Yonese J, Yuasa T (2022) A radiological complete response to pembrolizumab in a patient with metastatic upper urinary tract urothelial cancer and Lynch syndrome. IJU Case Rep 6(1):33–36. https://doi.org/10.1002/iju5.12542

Article  PubMed  PubMed Central  Google Scholar 

Huang D, Matin SF, Lawrentschuk N, Roupret M (2018) Systematic review: an update on the spectrum of urological malignancies in Lynch syndrome. Bladder Cancer 4(3):261–268. https://doi.org/10.3233/BLC-180180

Article  PubMed  Google Scholar 

Watson P, Vasen HFA, Mecklin JP, Bernstein I, Aarnio M, Järvinen HJ, Myrhøj T, Sunde L, Wijnen JT, Lynch HT (2008) The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer 123(2):444–449. https://doi.org/10.1002/ijc.23508

Article  CAS  PubMed  PubMed Central  Google Scholar 

Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Valentin MD, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Moeslein G, Sampson JR, Capella G, Mallorca Group (2018) Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the prospective lynch syndrome database. Gut 67(7):1306–1316. https://doi.org/10.1136/gutjnl-2017-314057

Article  PubMed  Google Scholar 

Hubosky SG, Boman BM, Charles S, Bibbo M, Bagley DH (2013) Ureteroscopic management of upper tract urothelial carcinoma (UTUC) in patients with lynch syndrome (hereditary nonpolyposis colorectal cancer syndrome). BJU Int 112(6):813–819. https://doi.org/10.1111/bju.12008

Article  PubMed  Google Scholar 

Bajorin DF, Witjes JA, Gschwend JE, Schenker M, Valderrama BP, Tomita Y, Bamias A, Lebret T, Shariat SF, Park SH, Ye D, Agerbaek M, Enting D, McDermott R, Gajate P, Peer A, Milowsky MI, Nosov A, Antonio JN Jr, Tupikowski K, Toms L, Fischer BS, Qureshi A, Collette S, Unsal-Kacmaz K, Broughton E, Zardavas D, Koon HB, Galsky MD (2021) Adjuvant nivolumab versus placebo in muscle-invasive urothelial carcinoma. N Engl J Med 384(22):2102–2114. https://doi.org/10.1056/NEJMoa2034442

Article  CAS  PubMed  PubMed Central  Google Scholar