NDLI: Uroepithelial and kidney carcinoma in Lynch syndrome

Content Provider	Springer Nature Link
Author	Aarnio, Markku Säily, Matti Juhola, Matti Gylling, Annette Peltomäki, Päivi Järvinen, Heikki J. Mecklin, Jukka Pekka
Copyright Year	2012
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.
Starting Page	395
Ending Page	401
Page Count	7
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	11
Issue Number	3
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2012-04-04
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Lynch syndrome HNPCC Urological tumors Surveillance Epidemiology Biomedicine general Human Genetics Cancer Research
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
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3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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