2019
DNAJB1-PRKACA fusions occur in oncocytic pancreatic and biliary neoplasms and are not specific for fibrolamellar hepatocellular carcinoma
Vyas M, Hechtman J, Zhang Y, Benayed R, Yavas A, Askan G, Shia J, Klimstra D, Basturk O. DNAJB1-PRKACA fusions occur in oncocytic pancreatic and biliary neoplasms and are not specific for fibrolamellar hepatocellular carcinoma. Modern Pathology 2019, 33: 648-656. PMID: 31676785, PMCID: PMC7125037, DOI: 10.1038/s41379-019-0398-2.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBiliary Tract NeoplasmsBiomarkers, TumorCarcinoma, HepatocellularCyclic AMP-Dependent Protein Kinase Catalytic SubunitsFemaleGene FusionGenetic Predisposition to DiseaseHSP40 Heat-Shock ProteinsHumansLiver NeoplasmsMaleMiddle AgedOxyphil CellsPancreatic NeoplasmsPhenotypePrognosisSodium-Potassium-Exchanging ATPaseConceptsDNAJB1-PRKACA fusionProtein kinase activityKinase activityAnchored multiplex PCR technologyIdentification of sequence mutationsMultiplex PCR technologyFibrolamellar hepatocellular carcinomaDetect gene fusionsCopy number alterationsNext-generation sequencingNext-generation sequencing assayHybridization capture-based next-generation sequencing assaySequence mutationsHepatocellular carcinomaGene fusionsSequencing assayFISH analysisPancreatobiliary neoplasmsPCR technologyProtein kinase inhibitionStructural rearrangementsArginase-1MRNA in situ hybridizationAlbumin mRNA in situ hybridizationGenes
2017
Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma
Basturk O, Berger M, Yamaguchi H, Adsay V, Askan G, Bhanot U, Zehir A, Carneiro F, Hong S, Zamboni G, Dikoglu E, Jobanputra V, Wrzeszczynski K, Balci S, Allen P, Ikari N, Takeuchi S, Akagawa H, Kanno A, Shimosegawa T, Morikawa T, Motoi F, Unno M, Higuchi R, Yamamoto M, Shimizu K, Furukawa T, Klimstra D. Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma. Modern Pathology 2017, 30: 1760-1772. PMID: 28776573, DOI: 10.1038/modpathol.2017.60.Peer-Reviewed Original ResearchConceptsGenetic characteristicsIdentification of sequence mutationsIntraductal papillary mucinous neoplasmWhole-genome sequencingIntraductal tubulopapillary neoplasmPapillary mucinous neoplasmWhole-exome sequencingCopy number alterationsNext-generation sequencingPI3K) pathwayChromatin remodeling genesMAP kinase pathwayPhosphatidylinositol 3-kinaseTargeted Next-Generation SequencingLoss of CDKN2AGenomic analysisTubulopapillary neoplasmSequence mutationsMucinous neoplasmsTested genesMutated genesGenesGenetic alterationsMAP kinaseRemodeling genes
2016
The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes
Basturk O, Tan M, Bhanot U, Allen P, Adsay V, Scott S, Shah R, Berger M, Askan G, Dikoglu E, Jobanputra V, Wrzeszczynski K, Sigel C, Iacobuzio-Donahue C, Klimstra D. The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes. Modern Pathology 2016, 29: 1058-1069. PMID: 27282351, PMCID: PMC5524210, DOI: 10.1038/modpathol.2016.98.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkers, TumorChromograninsDNA Mutational AnalysisDNA-Binding ProteinsFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGTP-Binding Protein alpha Subunits, GsHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMutationNeoplasms, Cystic, Mucinous, and SerousOncogene ProteinsOxyphil CellsPancreatic NeoplasmsPhenotypeProto-Oncogene Proteins p21(ras)Tumor Suppressor Protein p53Ubiquitin-Protein LigasesWhole Genome SequencingConceptsIntraductal papillary mucinous neoplasmIntraductal papillary mucinous neoplasm subtypesPapillary mucinous neoplasmMucinous neoplasmsOncocytic epitheliumSubtyping intraductal papillary mucinous neoplasmsOncocytic subtypesNext-generation sequencingWorld Health OrganizationIntraductal oncocytic papillary neoplasmParaffin-embedded specimensCopy number alterationsIdentification of sequence mutationsCancer-associated genesOncocytic cytoplasmGNAS mutationsPIK3R1 mutationsFresh-frozen specimensHealth OrganizationPapillary neoplasmERBB4 geneMolecular alterationsFormalin-FixedNeoplasmsRNF43 mutations
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