2016
Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas
Toledo RA, Qin Y, Cheng ZM, Gao Q, Iwata S, Silva GM, Prasad M, Ocal IT, Rao S, Aronin N, Barontini M, Bruder J, Reddick RL, Chen Y, Aguiar RC, Dahia PL. Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas. Clinical Cancer Research 2016, 22: 2301-2310. PMID: 26700204, PMCID: PMC4854762, DOI: 10.1158/1078-0432.ccr-15-1841.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdrenal Gland NeoplasmsAdultAgedCarcinoma, NeuroendocrineChildChromatinChromatin Assembly and DisassemblyC-Mer Tyrosine KinaseExomeFemaleGerm-Line MutationGiant Cell Tumor of BoneHistone DemethylasesHistone MethyltransferasesHistone-Lysine N-MethyltransferaseHistonesHumansMaleMiddle AgedParagangliomaPheochromocytomaThyroid NeoplasmsYoung AdultConceptsHistone methylation analysisAnalysis of mutantsChromatin-remodeling genesChromatin remodelingHistone demethylasesTranscriptome sequencingFrequent genetic eventKinase geneMolecular basisPPGL susceptibility genesGenesGenetic eventsNeural crest originMethylation analysisSusceptibility genesNew cancer syndromeMost PPGLsMutationsSomatic mutationsProtein expressionCell linesDomain mutationsFGFR1 mutationsWestern blottingDriver mutations
2015
C-Cell Neoplasia in Asymptomatic Carriers of RET Mutation in Extracellular Cysteine-Rich and Intracellular Tyrosine Kinase Domain
Abi-Raad R, Virk RK, Dinauer CA, Prasad A, Morotti RA, Breuer CK, Sosa JA, Udelsman R, Rivkees SA, Prasad ML. C-Cell Neoplasia in Asymptomatic Carriers of RET Mutation in Extracellular Cysteine-Rich and Intracellular Tyrosine Kinase Domain. Human Pathology 2015, 46: 1121-1128. PMID: 26033033, DOI: 10.1016/j.humpath.2015.04.011.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultCarcinoma, NeuroendocrineChildChild, PreschoolFemaleGenetic Predisposition to DiseaseGerm-Line MutationHeterozygoteHumansInfantMaleMiddle AgedMultiple Endocrine NeoplasiaProtein Structure, TertiaryProto-Oncogene MasProto-Oncogene Proteins c-retThyroid NeoplasmsYoung AdultConceptsMedullary thyroid carcinomaMultiple endocrine neoplasia type 2C-cell hyperplasiaAsymptomatic carriersC-cell neoplasiaRET mutationsMTC familiesHigh-risk RET mutationsIntracellular tyrosine kinase domainTyrosine kinase domainC-cell diseaseC-cell pathologyLymph node metastasisCodon 918 mutationYounger median ageReceptor tyrosine kinase proteinTotal thyroidectomyProgressive diseaseMedian ageNode metastasisThyroid carcinomaType 2Germline mutationsTyrosine kinase proteinFormer group