Abstract
Aim The aim of this study was to evaluate if Urine Cytology (UC) is an appropriate screening procedure for detecting urinary tract neoplasia at an early stage in persons at risk in Hereditary Non-Polyposis Colorectal Cancer families. Method In the National Danish HNPCC-register persons at risk were identified in three categories of HNPCC-families (1) families harbouring a disease causing mutation in a Mismatch repair gene (MMR), (2) families fulfilling the Amsterdam I or II criteria and (3) families suspected of HNPCC. In total 3,411 persons were identified and traced in Patobank—the National Danish Pathology database. All UC and UTC (Urinary Tract Tumours) were listed and evaluated. Results 977 persons had a total of 1,868 screening procedures performed. Two of these procedures (0.1%) lead to diagnosis of an asymptomatic urothelial tumour. In ten times as many procedures (22 persons) UC lead to a false positive screening diagnosis. During the study period fourteen persons (1.4%) developed a UTC and five of these were interval tumours. The sensitivity of UC in diagnosing asymptomatic UTC in HNPCC patients was 29%. Twelve of the tumours were found in persons from families with a proven MMR-mutation and eleven out of these were MSH2 mutations (92%, 95% cl 62–100%). Discussion UC is not a proper method of screening for UTC in HNPCC. However, the study can not reveal if screening for UTC in special families ought to be recommended. Consequently, further studies needs to be performed in order to evaluate an appropriate screening programme.
Similar content being viewed by others
Abbreviations
- HNPCC:
-
Hereditary non-polyposis colorectal cancer
- LS:
-
Lynch syndrome
- FCC:
-
Familial colorectel cancer
- UC:
-
Urine cytology
- UTC:
-
Urinary tract carcinomas including tumours without invasion
- MMR:
-
The mismatch repair genes, MLH1, MSH2, MSH6, PMS1 and PMS2
References
Sijmons RH, Kiemeney LA, Witjes JA, Vasen HF (1998) Urinary tract cancer and hereditary nonpolyposis colorectal cancer: risks and screening options. J Urol 160(2):466–470
Vasen HF, Moslein G, Alonso A, Bernstein I, Bertario L, Blanco I, Burn J, Capella G, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Mecklin JP, Moller P, Nagengast FN, Parc Y, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Wijnen J (2007) Guidelines for the clinical management of Lynch syndrome (HNPCC). J Med Genet 44: 353–362
Vasen HF, Stormorken A, Menko FH, Nagengast FM, Kleibeuker JH, Griffioen G, Taal BG, Moller P, Wijnen JT (2001) MSH2 Mutation carriers are at higher risk of cancer than MLH1 mutation carriers: A study of Hereditary Nonpolyposis Colorectal Cancer families. J Clin Oncol 15:194074–194080
Bastacky S, Ibrahim S, Wilczynski SP, Murphy WM (1999) The accuracy of urinary cytology in daily practice. Cancer 87(3):118–128
Acknowledgements
The departments of clinical genetics at Aarhus University Hospital, Odense University Hospital and Vejle Hospital for referring families. The Laboratories at Copenhagen University Hospital, Rigshospitalet, Aarhus University Hospital Skejby and Aalborg University Hospital for performing the mutation screenings. All the departments of Surgery, who performed the screening procedures. Elza Ahmedovska for finding all the relevant medical papers.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Myrhøj, T., Andersen, MB. & Bernstein, I. Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer. Familial Cancer 7, 303–307 (2008). https://doi.org/10.1007/s10689-008-9193-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10689-008-9193-9