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Open Access Research article

Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma

Vikram Deshpande1, Afamefuna Nduaguba3, Stephanie M Zimmerman1, Sarah M Kehoe2, Laura E MacConaill2, Gregory Y Lauwers1, Cristina Ferrone1, Nabeel Bardeesy1, Andrew X Zhu1* and Aram F Hezel3*

Author Affiliations

1 Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, Massachusetts 02114, USA

2 Center for Cancer Genome Discovery, Harvard Medical School, Dana-Farber Cancer Institute, 44 Binney Street, Boston, Massachusetts 02115, USA

3 James P. Wilmot Cancer Center, University of Rochester School of Medicine, 300 Elmwood Avenue, Rochester, NY 14642, USA

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BMC Cancer 2011, 11:60  doi:10.1186/1471-2407-11-60

Published: 8 February 2011

Abstract

Background

The genetics of advanced biliary tract cancers (BTC), which encompass intra- and extra-hepatic cholangiocarcinomas as well as gallbladder carcinomas, are heterogeneous and remain to be fully defined.

Methods

To better characterize mutations in established known oncogenes and tumor suppressor genes we tested a mass spectrometric based platform to interrogate common cancer associated mutations across a panel of 77 formalin fixed paraffin embedded archived BTC cases.

Results

Mutations among three genes, KRAS, NRAS and PIK3CA were confirmed in this cohort. Activating mutations in PIK3CA were identified exclusively in GBC (4/32, 12.5%). KRAS mutations were identified in 3 (13%) intra-hepatic cholangiocarcinomas and 1 (33%) perihillar cholangiocarcinoma but were not identified in gallbladder carcinomas and extra-hepatic cholangiocarcinoma.

Conclusions

The presence of activating mutations in PIK3CA specifically in GBC has clinical implications in both the diagnosis of this cancer type, as well as the potential utility of targeted therapies such as PI3 kinase inhibitors.