title: Uroepithelial and kidney carcinoma in Lynch syndrome.
abstract: Increased risk for urological tumors has been observed in mutation carriers with Lynch syndrome (LS). In this study, we evaluated the clinical features of uroepithelial (bladder and ureter) and kidney cancers in 974 Finnish mutation carriers. Altogether 30 patients had a total of 34 urological tumors: 12 ureter, 12 bladder, and 10 kidney cancers. Urological tumor was the only tumor in 9 (30 %) patients, and metachronous other tumor occurred in 21 (70 %). The occurrence of uroepithelial cancers was significantly higher in MSH2 mutation carriers (6 %; 95 % CI, 2.7-11.0) than in MLH1 carriers (2 %; 95 % CI, 1.1-3.2) and MSH6 mutation carriers (0 %) (p = 0.014). The mean ages of patients at the time of diagnosis were: bladder cancer, 57 years; ureter cancer, 58 years; and kidney cancer, 64 years. Overall 5-year survival rates were 70 % (95 % CI, 0.32-0.89) in bladder cancer, 81 % (95 % CI, 0.45-0.95) in ureter cancer, and 75 % (95 % CI, 0.31-0.93) in kidney cancer. Cancer-specific 5-year survival rates were 70 % (95 % CI, 0.32-0.89) in bladder cancer, 91 % (95 % CI, 0.51-0.98) in ureter cancer, and 100 % in kidney cancer. In conclusion, early age of onset was observed in patients with uroepithelial tumors, but not in patients with kidney cancer. The frequency of uroepithelial tumors was significantly higher in MSH2 mutation carriers than in MLH1 carriers. Further studies with larger numbers of patients, however, are needed to evaluate the potential benefit of surveillance of urological tumors in LS.
authors.affiliation: Department of Surgery, Jyväskylä Central Hospital, Jyväskylä, Finland. markku.aarnio@ksshp.fi
authors.forename: Markku
authors.initials: M
authors.lastname: Aarnio
authors.forename: Matti
authors.initials: M
authors.lastname: Säily
authors.forename: Matti
authors.initials: M
authors.lastname: Juhola
authors.forename: Annette
authors.initials: A
authors.lastname: Gylling
authors.forename: Päivi
authors.initials: P
authors.lastname: Peltomäki
authors.forename: Heikki J
authors.initials: HJ
authors.lastname: Järvinen
authors.forename: Jukka-Pekka
authors.initials: JP
authors.lastname: Mecklin
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D000368:Aged; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000150:complications / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005387:Finland; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D007680:Kidney Neoplasms / Q000209:etiology* / Q000235:genetics / Q000401:mortality; D008297:Male; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D014516:Ureteral Neoplasms / Q000209:etiology* / Q000235:genetics / Q000401:mortality; D001749:Urinary Bladder Neoplasms / Q000209:etiology* / Q000235:genetics / Q000401:mortality
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein