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Familial Cancer

, Volume 11, Issue 3, pp 395–401 | Cite as

Uroepithelial and kidney carcinoma in Lynch syndrome

  • Markku AarnioEmail author
  • Matti Säily
  • Matti Juhola
  • Annette Gylling
  • Päivi Peltomäki
  • Heikki J. Järvinen
  • Jukka-Pekka Mecklin
Original Article

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.

Keywords

Lynch syndrome HNPCC Urological tumors Surveillance 

Notes

Acknowledgments

This study was supported by the Academy of Finland, the Sigrid Juselius Foundation, the Finnish Cancer Organizations, Biocentrum Helsinki, the European Research Council (FP7-ERC-232635) and grants from Jyväskylä Central Hospital. We wish to thank Mrs. Tuula Lehtinen and Mrs. Kirsi Pylvänäinen for data collection and general assistance, as well as Mr. Hannu Kautiainen for his assistance with statistics. We also acknowledge Docents Risto Sankila and Eero Pukkala of the Finnish Cancer Registry for their statistical expertise.

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Copyright information

© Springer Science+Business Media B.V. 2012

Authors and Affiliations

  • Markku Aarnio
    • 1
    • 6
    Email author
  • Matti Säily
    • 2
  • Matti Juhola
    • 3
  • Annette Gylling
    • 4
  • Päivi Peltomäki
    • 4
  • Heikki J. Järvinen
    • 5
  • Jukka-Pekka Mecklin
    • 1
  1. 1.Department of SurgeryJyväskylä Central HospitalJyväskyläFinland
  2. 2.Department of UrologyHelsinki University Central HospitalHelsinkiFinland
  3. 3.Department of PathologyJyväskylä Central HospitalJyväskyläFinland
  4. 4.Departments of Medical Genetics, Haartman InstituteUniversity of HelsinkiHelsinkiFinland
  5. 5.Department of SurgeryHelsinki University Central HospitalHelsinkiFinland
  6. 6.Department of SurgeryJyväskylä Central Hospital, JyväskyläJyväskyläFinland

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