Mutations of KRAS, NRAS, BRAF, EGFR, and PIK3CA genes in urachal carcinoma: Occurence and prognostic significance

摘要: // Orsolya Modos 1 , Henning Reis 2 Christian Niedworok 3 Herbert Rubben Attila Szendroi Marcell A. Szasz 4 Jozsef Timar Kornelia Baghy 5 Ilona Kovalszky Tomasz Golabek 6 Piotr Chlosta Krzysztof Okon 7 Benoit Peyronnet 8 Romain Mathieu Shahrokh F. Shariat 9 Peter Hollosi 5,10 Nyirady and Tibor Szarvas 1,3 Department of Urology, Semmelweis University, Budapest, Hungary Institute Pathology, University Duisburg-Essen, Essen, Germany 2nd 1st Pathology Experimental Cancer Research, Jagiellonian Krakow, Poland Pathomorphology, Rennes Hospital, Rennes, France Medical Vienna, Vienna General Austria 10 Tumor Progression Research Group, Hungarian Academy Sciences, Correspondence to: Szarvas, email: Keywords : urachal carcinoma, cancer, urachus, mutation, EGFR, Section Received April 08, 2016 Accepted May 29, Published June 05, Abstract Purpose: Targeted therapy represents an attractive alternative for rare tumors such as carcinoma (UrC). The aim this study was to assess the mutations most commonly affected genes in targetable EGFR-pathway UrC comapre their frequencies those found urothelial colorectal cancer. Materials Methods: Mutational hot-spots selected were tested 22 samples by pyrosequencing. patterns compared published cancers. Furthermore, we sought correlations between clinicopathological follow-up data. Results: We 11 (45%) patients. frequently mutated gene KRAS (27%) followed BRAF (18%) NRAS (5%), while no detected EGFR PIK3CA genes. No correlation mutation status parameters (Sheldon/Mayo stage, tumor grade, metastases). none correlated with progression-free or overall survival. Conclusions: pattern is more similar than However, characteristics seems be unique suggesting that clinical decision-making cannot simply adopted from carcinoma. high occurence warrants testing when considering anti-EGFR UrC.