PATH-38. APC MUTATION AS A DRIVER ONCOGENE IN NON-CTNNB1 MUTANT ADAMANTINOMATOUS CRANIOPHARYNGIOMAS
Hong C, Erson-Omay Z, Omay S. PATH-38. APC MUTATION AS A DRIVER ONCOGENE IN NON-CTNNB1 MUTANT ADAMANTINOMATOUS CRANIOPHARYNGIOMAS. Neuro-Oncology 2021, 23: vi123-vi123. PMCID: PMC8598823, DOI: 10.1093/neuonc/noab196.490.Peer-Reviewed Original ResearchAdamantinomatous craniopharyngiomaInstitutional review board-approved protocolCTNNB1 mutationsFamilial adenomatous polyposisWhole-exome sequencingAPC mutationsNeurological deficitsVentricular involvementOptic apparatusClassic subtypeStop codon mutationMalignant tumorsThird ventricleBRAF inhibitorsCraniopharyngeal ductDriver oncogenesTherapeutic strategiesMAP kinase/ERKCraniopharyngiomaGermline APC mutationsPapillary craniopharyngiomasPituitary glandAdenomatous polyposisPathogenic variantsEmbryonic remnantsPIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytoma
Hong C, Khan M, Sukys J, Prasad M, Erson-Omay EZ, Vining E, Omay SB. PIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytoma. Molecular Case Studies 2021, 8: mcs.a006120. PMID: 34667073, PMCID: PMC8744496, DOI: 10.1101/mcs.a006120.Peer-Reviewed Original ResearchConceptsCase of glomangiopericytomaWhole-exome sequencingInstitutional review board-approved protocolTargeted medical therapyUnderwent surgical resectionPI3K/Akt/mTORWnt/β-cateninAkt/mTORPrimary sinonasal tumorSurgical resectionClinicopathologic characteristicsMedical therapyRare tumorPIK3CA mutationsSinonasal tumorsGlomangiopericytomaTumorsΒ-cateninSomatic mutationsComprehensive genetic characterizationGenomic characterizationMutationsConcurrent dysregulationResectionSinonasal