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
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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ABSTRACT: ► Lynch syndrome involves many rare cancers, such as urothelial carcinoma. ► The case describes incidental urothelial carcinoma associated with Lynch syndrome. ► Clinical suspicion of rare cancers must be maintained in certain patients.01/2012; 4:26-8. DOI:10.1016/j.gynor.2012.12.005
- World Journal of Urology 09/2012; 31(1). DOI:10.1007/s00345-012-0958-2 · 3.42 Impact Factor
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ABSTRACT: OBJECTIVES: Primary upper tract urothelial carcinoma (UTUC) is a relatively rare tumor with up to 60% of cases being muscle invasive at presentation. In this article we review the molecular biology of UTUC, an understanding of which may help to address some of the dilemmas surrounding the diagnosis and treatment of this disease and ultimately lead to the introduction of personalized treatment plans. METHODS: The literature search on the molecular aspects of UTUC was performed using the National Library of Medicine database. RESULTS: UTUC and urothelial carcinomas of the bladder share many common biological pathways. UTUC are more commonly associated with conditions such as Balkan Endemic Nephropathy and Hereditary Non Polyposis Colon Cancer (HNPCC), the molecular basis of which is now being understood. A large number of potential biomarkers have been studied to help identify robust prognostic markers in UTUC. CONCLUSION: Advances in our understanding of the biology of UTUC is may in the future help to identify novel druggable targets, clinically applicable biomarkers and guide treatment of the rare but lethal condition.Urologic Oncology 02/2013; 32(1). DOI:10.1016/j.urolonc.2012.10.002 · 3.36 Impact Factor