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

作者：Audenet Francois; Colin Pierre; Yates David R; Ouzzane Adil; Pignot Geraldine; Long Jean Alexandre; Soulie Michel; Phe Veronique; Bensadoun Henri; Guy Laurent; Ruffion Alain; Valeri Antoine; Cormier Luc; Droupy Stephane; de La Taille Alexandre; Saint Fabien; Fais Pierre Olivier; Houlgatte Alain; Cussenot Olivier; Roupret Morgan^*

来源：BJU International, 2012, 110(11B): E583-E589.

DOI：10.1111/j.1464-410X.2012.11298.x

• urothelial carcinoma
• renal pelvis
• ureter
• sporadic
• hereditary

OBJECTIVE %26lt;br%26gt;To identify, based on previously described clinical criteria, hereditary upper urinary tract urothelial carcinomas (UUT-UCs) that are likely to be misclassified as sporadic although they may belong to the spectrum of hereditary non-polyposis colorectal cancer (HNPCC) associated cancers. %26lt;br%26gt;PATIENTS AND METHODS %26lt;br%26gt;We identified, using established clinical criteria, suspected hereditary UUT-UC among 1122 patients included in the French national database for UUT-UC. %26lt;br%26gt;Patients were considered at risk for hereditary status in the following situations: age at diagnosis %26lt;60 years with no previous history of bladder cancer; previous history of HNPCC-related cancer regardless of age; one first-degree relative with HNPCC-related cancer diagnosed before 50 years of age or two first-degree relatives diagnosed regardless of age. %26lt;br%26gt;RESULTS %26lt;br%26gt;Overall, 239 patients (21.3%) were considered to be at risk of hereditary UUT-UC. %26lt;br%26gt;Compared with sporadic cases, hereditary cases are more likely to be female (P = 0.047) with less exposure to tobacco (P = 0.012) and occupational carcinogens (P = 0.037). A greater proportion of tumours were located in the renal pelvis (54.5% vs 48.4%; P = 0.026) and were lower grade (40% vs 30.1%; P = 0.015) in the hereditary cohort. %26lt;br%26gt;The overall, cancer-specific and recurrence-free survival rates were similar in both cohorts. %26lt;br%26gt;We propose a patient-specific risk identification tool. %26lt;br%26gt;CONCLUSIONS %26lt;br%26gt;A significant proportion (21.3%) of patients with newly diagnosed UUT-UC may have underlying HNPCC as a cause. %26lt;br%26gt;Recognition of such potential and application of a patient-specific checklist upon diagnosis will allow identification and appropriate clinical and genetic management for patient and family.

• 出版日期2012-12