Upper Tract Urothelial Carcinoma in the Lynch Syndrome Tumour Spectrum: A Comprehensive Overview from the European Association of Urology - Young Academic Urologists and the Global Society of Rare Genitourinary Tumors

European urology oncology - Tập 5 - Trang 30-41 - 2022
Chiara Lonati1,2, Andrea Necchi3,4, Juan Gómez Rivas5, Luca Afferi2, Ekaterina Laukhtina6,7, Alberto Martini8, Eugenio Ventimiglia8, Renzo Colombo8, Giorgio Gandaglia8, Andrea Salonia3,8, Alberto Briganti3,8, Francesco Montorsi3,8, Agostino Mattei2, Claudio Simeone1, Maria I. Carlo9, Shahrokh F. Shariat6,7,10,11,12, Philippe E. Spiess13, Marco Moschini2,8
1Department of Urology, Spedali Civili di Brescia, Brescia, Italy
2Department of Urology, Luzerner Kantonsspital, Lucerne, Switzerland
3University Vita-Salute San Raffaele, Milan, Italy
4Department of Medical Oncology, Urological Research Institute, IRCCS Ospedale San Raffaele, Milan, Italy
5Department of Urology, Clinico San Carlos Hospital, Madrid, Spain
6Department of Urology, Comprehensive Cancer Center, Medical University of Vienna, Vienna General Hospital, Vienna, Austria
7Institute for Urology and Reproductive Health, Sechenov University, Moscow, Russia
8Division of Experimental Oncology/Unit of Urology, Urological Research Institute, IRCCS Ospedale San Raffaele, Milan, Italy
9Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA
10Department of Urology, Weill Cornell Medical College, New York, NY, USA
11Department of Urology, University of Texas Southwestern Medical Center, Dallas, TX, USA
12Department of Urology, Second Faculty of Medicine, Charles University, Prague, Czech Republic
13Department of Genitourinary Oncology, Moffitt Cancer Center and Research Institute, Tampa, FL, USA

Tài liệu tham khảo

Giardiello, 2014, Guidelines on genetic evaluation and management of Lynch Task Force on colorectal cancer, Gastroenterology, 147, 502, 10.1053/j.gastro.2014.04.001 Colin, 2016, Lynch syndrome and exposure to aristolochic acid in upper-tract urothelial carcinoma : its clinical impact, Transl Androl Urol, 5, 648, 10.21037/tau.2016.03.18 Rouprêt, 2008, Upper urinary tract urothelial cell carcinomas and other urological malignancies involved in the hereditary nonpolyposis colorectal cancer (Lynch syndrome) tumor spectrum, Eur Urol, 54, 1226, 10.1016/j.eururo.2008.08.008 Mork, 2015, Lynch syndrome: a primer for urologists and panel recommendations, J Urol, 194, 21, 10.1016/j.juro.2015.02.081 Liberati, 2009, The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate healthcare interventions: explanation and elaboration, BMJ, 339, 10.1136/bmj.b2700 Barbosa, 2018, Smoking intensity and bladder cancer aggressiveness at diagnosis, PLoS One, 13, 10.1371/journal.pone.0194039 Sijmons, 1998, Urinary tract cancer and hereditary nonpolyposis colorectal cancer: risks and screening options, J Urol, 160, 466, 10.1016/S0022-5347(01)62926-4 Watson, 2008, The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome, Int J Cancer, 123, 444, 10.1002/ijc.23508 Hartmann, 2002, Frequent microsatellite instability in sporadic tumors of the upper urinary tract, Cancer Res, 62, 6796 Urakami, 2018, Clinicopathological characteristics of patients with upper urinary tract urothelial cancer with loss of immunohistochemical expression of the DNA mismatch repair proteins in universal screening, Int J Urol, 25, 151, 10.1111/iju.13481 Catto, 2003, Distinct patterns of microsatellite instability are seen in tumours of the urinary tract, Oncogene, 22, 8699, 10.1038/sj.onc.1206964 Ito, 2019, Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population, Jpn J Clin Oncol, 50, 80, 10.1093/jjco/hyz140 Bai, 2013, Microsatellite instability and TARBP2 mutation study in upper urinary tract urothelial carcinoma, Am J Clin Pathol, 139, 765, 10.1309/AJCPBSLP8XHSWLOW Ericson, 2005, Low frequency of defective mismatch repair in a population-based series of upper urothelial carcinoma, BMC Cancer, 5, 1, 10.1186/1471-2407-5-23 Hartmann, 2003, Urothelial carcinoma of the upper urinary tract: Inverted growth pattern is predictive of microsatellite instability, Hum Pathol, 34, 222, 10.1053/hupa.2003.22 Ehsani, 2014, Expression of MLH1 and MSH2 in urothelial carcinoma of the renal pelvis, Tumor Biol, 35, 8743, 10.1007/s13277-014-2141-4 Harper, 2017, Upper tract urothelial carcinomas: Frequency of association with mismatch repair protein loss and lynch syndrome, Mod Pathol, 30, 146, 10.1038/modpathol.2016.171 Ju, 2018, Universal Lynch syndrome screening should be performed in all upper tract urothelial carcinomas, Am J Surg Pathol, 42, 1549, 10.1097/PAS.0000000000001141 Engel, 2012, Risks of less common cancers in proven mutation carriers with lynch syndrome, J Clin Oncol, 30, 4409, 10.1200/JCO.2012.43.2278 Gayhart, 2020, Universal mismatch repair protein screening in upper tract urothelial carcinoma: a validation study with comparison to colorectal and endometrial adenocarcinoma, Am J Clin Pathol, 154, 792, 10.1093/ajcp/aqaa100 Schneider, 2020, Loss of mismatch-repair protein expression and microsatellite instability in upper tract urothelial carcinoma and clinicopathologic implications, Clin Genitourin Cancer, 18, e563, 10.1016/j.clgc.2020.03.006 Rolim, 2020, Clinicopathologic analysis of upper urinary tract carcinoma with variant histology, Virchows Arch, 477, 111, 10.1007/s00428-020-02745-4 Crockett, 2011, Upper urinary tract carcinoma in Lynch syndrome cases, J Urol, 185, 1627, 10.1016/j.juro.2010.12.102 Aarnio, 2012, Uroepithelial and kidney carcinoma in Lynch syndrome, Fam Cancer, 11, 395, 10.1007/s10689-012-9526-6 Skeldon, 2013, Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer, Eur Urol, 63, 379, 10.1016/j.eururo.2012.07.047 Hubosky, 2013, Ureteroscopic management of upper tract urothelial carcinoma (UTUC) in patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer syndrome), BJU Int, 112, 813, 10.1111/bju.12008 Therkildsen, 2018, Molecular subtype classification of urothelial carcinoma in Lynch syndrome, Mol Oncol, 12, 1286, 10.1002/1878-0261.12325 Donahue, 2018, Genomic characterization of upper-tract urothelial carcinoma in patients with Lynch syndrome, JCO Precis Oncol, 2018 Metcalfe, 2018, Universal point of care testing for Lynch syndrome in patients with upper tract urothelial carcinoma, J Urol, 199, 60, 10.1016/j.juro.2017.08.002 Joost, 2015, Urinary tract cancer in Lynch syndrome; increased risk in carriers of MSH2 mutations, Urology, 86, 1212, 10.1016/j.urology.2015.08.018 Blaszyk, 2002, Upper tract urothelial carcinoma: a clinicopathologic study including microsatellite instability analysis, Mod Pathol, 15, 790, 10.1097/01.MP.0000024263.25043.0C Mongiat-Artus, 2006, Microsatellite instability and mutation analysis of candidate genes in urothelial cell carcinomas of upper urinary tract, Oncogene, 25, 2113, 10.1038/sj.onc.1209229 Rouprêt, 2005, Microsatellite instability as predictor of survival in patients with invasive upper urinary tract transitional cell carcinoma, Urology, 65, 1233, 10.1016/j.urology.2005.01.019 Amira, 2003, Microsatellite instability in urothelial carcinoma of the upper urinary tract, J Urol, 170, 1151, 10.1097/01.ju.0000086551.22844.cd Wang, 2019, Expression status of GATA3 and mismatch repair proteins in upper tract urothelial carcinoma, Front Med, 13, 730, 10.1007/s11684-019-0687-7 Vasen, 1996, Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis, Gastroenterology, 110, 1020, 10.1053/gast.1996.v110.pm8612988 Barrow, 2013, The spectrum of urological malignancy in Lynch syndrome, Fam Cancer, 12, 57, 10.1007/s10689-012-9573-z Rouprêt, 2004, Microsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma, J Med Genet, 41, 1, 10.1136/jmg.2003.017871 Audenet, 2012, A proportion of hereditary upper urinary tract urothelial carcinomas are misclassified as sporadic according to a multi-institutional database analysis: proposal of patient-specific risk identification tool, BJU Int, 110, E583, 10.1111/j.1464-410X.2012.11298.x Rouprêt, 2005, Accuracy of the routine detection of mutation in mismatch repair genes in patients with susceptibility to hereditary upper urinary tract transitional cell carcinoma, BJU Int, 96, 149, 10.1111/j.1464-410X.2005.05585.x Hollande, 2014, Hereditary-like urothelial carcinomas of the upper urinary tract benefit more from adjuvant cisplatin-based chemotherapy after radical nephroureterectomy than do sporadic tumours, BJU Int, 113, 574, 10.1111/bju.12308 Acher, 2010, Towards a rational strategy for the surveillance of patients with Lynch syndrome (hereditary non-polyposis colon cancer) for upper tract transitional cell carcinoma, BJU Int, 106, 300, 10.1111/j.1464-410X.2010.09443.x Myrhøj, 2008, Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer, Fam Cancer, 7, 303, 10.1007/s10689-008-9193-9 Zachhau, 2012, Urinary tract cancer in patients with hereditary non-polyposis colorectal cancer, Scand J Urol Nephrol, 46, 5, 10.3109/00365599.2011.599334 Rouprêt, 2005, Microsatellite instability and transitional cell carcinoma of the upper urinary tract, BJU Int, 96, 489, 10.1111/j.1464-410X.2005.05671.x Pradere, 2017, Lynch syndrome in upper tract urothelial carcinoma: Significance, screening, and surveillance, Curr Opin Urol, 27, 48, 10.1097/MOU.0000000000000340 Lindor, 2014, Recommendations for the care predisposition to Lynch syndrome, JAMA, 296, 1507, 10.1001/jama.296.12.1507 Koornstra, 2009, Management of extracolonic tumours in patients with Lynch syndrome, Lancet Oncol, 10, 400, 10.1016/S1470-2045(09)70041-5 Rouprêt, 2021, European Association of Urology guidelines on upper urinary tract urothelial carcinoma: 2020 update, Eur Urol, 9, 80 Snowsill, 2017, Molecular testing for Lynch syndrome in people with colorectal cancer: Systematic reviews and economic evaluation, Health Technol Assess (Rockv), 21, 1, 10.3310/hta21510 Boland, 1998, A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer, Cancer Res, 59, 249 Buhard, 2004, Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis, Dis Markers, 20, 251, 10.1155/2004/159347 Vasen, 2013, Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts, Gut, 62, 812, 10.1136/gutjnl-2012-304356 Palomaki, 2009, EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome, Genet Med, 11, 42, 10.1097/GIM.0b013e31818fa2db Umar, 2004, Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability, J Natl Cancer Inst, 96, 261, 10.1093/jnci/djh034 Ladabaum, 2011, Strategies to identify the Lynch syndrome among patients with colorectal cancer, Ann Intern Med, 155, 69, 10.7326/0003-4819-155-2-201107190-00002 Snowsill, 2015, A model-based assessment of the cost-utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients, BMC Cancer, 15, 1, 10.1186/s12885-015-1254-5 Niu, 2014, MSIsensor: microsatellite instability detection using paired tumor-normal sequence data, Bioinformatics, 30, 1015, 10.1093/bioinformatics/btt755 Robinson, 2019, Upper tract urothelial carcinoma has a luminal-papillary T-cell depleted contexture and activated FGFR3 signaling, Nat Commun, 10, 2977, 10.1038/s41467-019-10873-y Audenet, 2019, Clonal relatedness and mutational differences between upper tract and bladder urothelial carcinoma, Clin Cancer Res, 25, 967, 10.1158/1078-0432.CCR-18-2039 Olivier, 2021, Endoscopy to diagnose and prevent digestive cancers in lynch syndrome, Cancers (Basel), 13, 1, 10.3390/cancers13143505 André, 2020, Pembrolizumab in microsatellite-instability–high advanced colorectal cancer, N Engl J Med, 383, 2207, 10.1056/NEJMoa2017699 Marabelle, 2020, Efficacy of pembrolizumab in patients with noncolorectal high microsatellite instability/mismatch repair–deficient cancer: results from the phase II KEYNOTE-158 study, J Clin Oncol, 38, 1, 10.1200/JCO.19.02105