Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer
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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.
KeywordsHNPCC Lynch syndrome Familial colorectal cancer Mismatch repair MSH2 Urinary tract carcinoma Urine cytology
Hereditary non-polyposis colorectal cancer
Familial colorectel cancer
Urinary tract carcinomas including tumours without invasion
The mismatch repair genes, MLH1, MSH2, MSH6, PMS1 and PMS2
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.
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