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A proportion of hereditary upper urinary tract urothelial carcinomas are misclassified as sporadic according to a multi-institutional database analysis: Proposal of patient-specific risk identification tool

Academic Department of Urology of la Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Faculté de Médecine Pierre et Marie Curie, University Paris VI Academic Department of Urology, CHU Lille, Lille Nord University Academic Department of Urology, Cochin Hospital, Assistance Publique - Hôpitaux de Paris, René Descartes University, Paris Academic Department of Urology, CHRU Grenoble, University of Grenoble Academic Department of Urology, CHRU Toulouse, University of Toulouse Department of Urology, Foch Hospital, University of Paris-Ile de France Ouest, Suresnes Academic Department of Urology, CHRU Caen, University of Caen Academic Department of Urology, CHRU Clermont-Ferrand, University of Clermont-Ferrand Academic Department of Urology, Lyon Sud Hospital, Claude Bernard Lyon 1 University Academic Department of Urology, CHRU Brest, University of Brest Academic Department of Urology, CHRU Dijon, University of Dijon Academic Department of Urology, CHRU Nîmes, University of Nîmes Academic Department of Urology, CHU Henri Mondor, Assistance Publique - Hôpitaux de Paris, Paris Est Créteil University Academic Department of Urology, CHRU Amiens, University of Amiens Academic Department of Urology, CHU Marseille, University of Marseille Department of Urology, Val de Grâce Military Hospital, Paris Academic Department of Urology of Tenon Hospital, Assistance Publique - Hôpitaux de Paris, Faculté de Médecine Pierre et Marie Curie, University Paris VI, France.
BJU International (Impact Factor: 3.13). 06/2012; 110(11B). DOI: 10.1111/j.1464-410X.2012.11298.x
Source: PubMed

ABSTRACT Study Type – Diagnostic (exploratory cohort)
Level of Evidence 3a
What's known on the subject? and What does the study add?
Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an autosomal dominant multi-organ cancer syndrome. Upper urinary tract urothelial carcinomas belong to HNPCC-related tumours and rank third within this group after colorectal and endometrial cancer. However, many urologists are not aware of this association and it is presumed that some hereditary cancers are misclassified as sporadic and that their incidence is underestimated. Consequently, family members of patients with upper urinary tract urothelial carcinomas secondary to HNPCC may be denied appropriate surveillance and early detection.
A significant proportion of patients (21.3%) with newly diagnosed upper urinary tract urothelial carcinomas may have underlying HNPCC. Demographic and epidemiological characteristics suggest different mechanisms of carcinogenesis among this population. Recognition of such potential is essential for appropriate clinical and genetic management of patients and family. In order to help to identify these patients, we propose a patient-specific checklist.

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