BMC cancer · 2011
Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma.
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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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
Аннотация
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.
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.
Предметные рубрики MeSH
AdultAgedAged, 80 and overBile Duct NeoplasmsBile Ducts, IntrahepaticCarcinomaCholangiocarcinomaClass I Phosphatidylinositol 3-KinasesCohort StudiesDNA Mutational AnalysisFemaleGallbladder NeoplasmsGenes, rasHumansLiver NeoplasmsMaleMiddle AgedPhosphatidylinositol 3-KinasesValidation Studies as Topic