Comprehensive genomic profiling of extrahepatic cholangiocarcinoma reveals a long tail of therapeutic targets.

Autor:	Lee H; Department of Pathology, Albany Medical College, Albany, New York, USA., Wang K; Foundation Medicine, Inc., Cambridge, Massachusetts, USA., Johnson A; Foundation Medicine, Inc., Cambridge, Massachusetts, USA., Jones DM; Department of Pathology, Albany Medical College, Albany, New York, USA., Ali SM; Foundation Medicine, Inc., Cambridge, Massachusetts, USA., Elvin JA; Foundation Medicine, Inc., Cambridge, Massachusetts, USA., Yelensky R; Foundation Medicine, Inc., Cambridge, Massachusetts, USA., Lipson D; Foundation Medicine, Inc., Cambridge, Massachusetts, USA., Miller VA; Foundation Medicine, Inc., Cambridge, Massachusetts, USA., Stephens PJ; Foundation Medicine, Inc., Cambridge, Massachusetts, USA., Javle M; The University of Texas MD Anderson Cancer Center, Houston, Texas, USA., Ross JS; Department of Pathology, Albany Medical College, Albany, New York, USA Foundation Medicine, Inc., Cambridge, Massachusetts, USA.
Jazyk:	angličtina
Zdroj:	Journal of clinical pathology [J Clin Pathol] 2016 May; Vol. 69 (5), pp. 403-8. Date of Electronic Publication: 2015 Oct 23.
DOI:	10.1136/jclinpath-2015-203394
Abstrakt:	Aim: We queried whether extrahepatic cholangiocarcinoma featured clinically relevant genomic alterations that could lead to targeted therapy. Methods: Comprehensive genomic profiling by hybridisation capture of up to 315 genes was performed on 99 clinically advanced extrahepatic cholangiocarcinoma. Results: There were 60 male and 39 female patients with a median age of 60.5 years. A total of 400 alterations were identified (mean 4.0; range 0-13) in 84 genes. Eighty-two (83%) of extrahepatic cholangiocarcinoma patients featured at least one clinically relevant genomic alterations including KRAS (43%); ERBB2 (9%), PTEN (7%); ATM and NF1 (6%) and CCND1, FBXW7, GNAS, MDM2 and NRAS (all at 5%). BRAF, BRCA2, CDK4, CDK6, FGFR1, FGFR3, PTCH1, RAF1 and STK11 were each altered in a single patient. No IDH1/2 mutations or FGFR2 gene fusions were identified. Conclusions: Comprehensive genomic profiling of extrahepatic cholangiocarcinoma differs significantly from intrahepatic cholangiocarcinoma and pancreatic adenocarcinoma, and reveals diverse opportunities for the use of targeted therapies. (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/)
Databáze:	MEDLINE
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