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Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation


The ampulla of Vater is a complex cellular environment from which adenocarcinomas arise to form a group of histopathologically heterogenous tumors. To evaluate the molecular features of these tumors, 98 ampullary adenocarcinomas were evaluated and compared to 44 distal bile duct and 18 duodenal adenocarcinomas. Genomic analyses revealed mutations in the WNT signaling pathway among half of the patients and in all three adenocarcinomas irrespective of their origin and histological morphology. These tumors were characterized by a high frequency of inactivating mutations of ELF3, a high rate of microsatellite instability, and common focal deletions and amplifications, suggesting common attributes in the molecular pathogenesis are at play in these tumors. The high frequency of WNT pathway activating mutation, coupled with small-molecule inhibitors of beta-catenin in clinical trials, suggests future treatment decisions for these patients may be guided by genomic analysis.

Type Journal
ISBN 2211-1247 (Electronic)
Authors Gingras, M. C.; Covington, K. R.; Chang, D. K.; Donehower, L. A.; Gill, A. J.; Ittmann, M. M.; Creighton, C. J.; Johns, A. L.; Shinbrot, E.; Dewal, N.; Fisher, W. E.; Australian Pancreatic Cancer Genome, Initiative; Pilarsky, C.; Grutzmann, R.; Overman, M. J.; Jamieson, N. B.; Van Buren, G., 2nd; Drummond, J.; Walker, K.; Hampton, O. A.; Xi, L.; Muzny, D. M.; Doddapaneni, H.; Lee, S. L.; Bellair, M.; Hu, J.; Han, Y.; Dinh, H. H.; Dahdouli, M.; Samra, J. S.; Bailey, P.; Waddell, N.; Pearson, J. V
Publisher Name Cell Reports
Published Date 2016-02-01
Published Volume 14
Published Issue 4
Published Pages 907-19
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version