Upper tract urothelial carcinomas: frequency of association with mismatch repair protein loss and lynch syndrome.

摘要: Increased risk for upper tract urothelial carcinoma is described in patients with Lynch syndrome, caused by germline mutations mismatch repair genes. We aimed to identify the frequency of protein loss and its potential identifying an association syndrome. queried our database carcinomas. Patients were cross-referenced history colorectal or other common syndrome-associated neoplasms enrich syndrome cases. Tumor histopathologic characteristics reviewed each case was analyzed proteins, MLH1, MSH2, MSH6, PMS2, immunohistochemistry. Of 444 carcinoma, a subset 215 (encompassing 30 another neoplasm) expression. neoplasms, six had documented including two Muir-Torre Mismatch identified 7% total carcinomas 30% (including all syndrome/Muir-Torre syndrome). without 5 184 (2.7%) Twelve cases demonstrated MSH2 2 isolated MSH6. MLH1 PMS2 expression consistently retained. Although increased intratumoral lymphocytes, inverted growth, pushing tumor-stromal interface, lack nuclear pleomorphism more commonly seen loss, only lymphocytes presence borders statistically significant. testing appear have little utility carcinoma; however, and/or MSH6 immunohistochemistry seems relatively sensitive specific