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Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma

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 suppr...

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Autores principales: Deshpande, Vikram, Nduaguba, Afamefuna, Zimmerman, Stephanie M, Kehoe, Sarah M, MacConaill, Laura E, Lauwers, Gregory Y, Ferrone, Cristina, Bardeesy, Nabeel, Zhu, Andrew X, Hezel, Aram F
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3045359/
https://www.ncbi.nlm.nih.gov/pubmed/21303542
http://dx.doi.org/10.1186/1471-2407-11-60
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author Deshpande, Vikram
Nduaguba, Afamefuna
Zimmerman, Stephanie M
Kehoe, Sarah M
MacConaill, Laura E
Lauwers, Gregory Y
Ferrone, Cristina
Bardeesy, Nabeel
Zhu, Andrew X
Hezel, Aram F
author_facet Deshpande, Vikram
Nduaguba, Afamefuna
Zimmerman, Stephanie M
Kehoe, Sarah M
MacConaill, Laura E
Lauwers, Gregory Y
Ferrone, Cristina
Bardeesy, Nabeel
Zhu, Andrew X
Hezel, Aram F
author_sort Deshpande, Vikram
collection PubMed
description 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.
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spelling pubmed-30453592011-02-26 Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma Deshpande, Vikram Nduaguba, Afamefuna Zimmerman, Stephanie M Kehoe, Sarah M MacConaill, Laura E Lauwers, Gregory Y Ferrone, Cristina Bardeesy, Nabeel Zhu, Andrew X Hezel, Aram F BMC Cancer Research Article 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. BioMed Central 2011-02-08 /pmc/articles/PMC3045359/ /pubmed/21303542 http://dx.doi.org/10.1186/1471-2407-11-60 Text en Copyright ©2011 Deshpande et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Deshpande, Vikram
Nduaguba, Afamefuna
Zimmerman, Stephanie M
Kehoe, Sarah M
MacConaill, Laura E
Lauwers, Gregory Y
Ferrone, Cristina
Bardeesy, Nabeel
Zhu, Andrew X
Hezel, Aram F
Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma
title Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma
title_full Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma
title_fullStr Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma
title_full_unstemmed Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma
title_short Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma
title_sort mutational profiling reveals pik3ca mutations in gallbladder carcinoma
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3045359/
https://www.ncbi.nlm.nih.gov/pubmed/21303542
http://dx.doi.org/10.1186/1471-2407-11-60
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