2022
Spectrum of qualitative and quantitative imaging of pilomyxoid, intermediate pilomyxoid and pilocytic astrocytomas in relation to their genetic alterations
Fadel SA, von Reppert M, Kazarian E, Omay EZE, Marks A, Linder N, Hoffmann KT, Darbinyan A, Huttner A, Aboian MS. Spectrum of qualitative and quantitative imaging of pilomyxoid, intermediate pilomyxoid and pilocytic astrocytomas in relation to their genetic alterations. Neuroradiology 2022, 65: 195-205. PMID: 35984480, DOI: 10.1007/s00234-022-03027-3.Peer-Reviewed Original ResearchConceptsPilocytic astrocytomaImaging characteristicsADC valuesAggressive imaging characteristicsSuprasellar pilocytic astrocytomaRecurrence/progressionPediatric brain tumorsFrontal white matterWhole-exome sequencingPilomyxoid astrocytomaIntraventricular extensionSuprasellar regionThird ventriclePosterior fossaAtypical locationBrain tumorsWhite matterGrade 1TumorsAstrocytomasDriver mutationsExome sequencingGenetic alterationsPatientsHippocampus
2021
Dual activating FGFR1 mutations in pediatric pilomyxoid astrocytoma
Fomchenko EI, Reeves BC, Sullivan W, Marks AM, Huttner A, Kahle KT, Erson‐Omay E. Dual activating FGFR1 mutations in pediatric pilomyxoid astrocytoma. Molecular Genetics & Genomic Medicine 2021, 9: e1597. PMID: 33448156, PMCID: PMC8077124, DOI: 10.1002/mgg3.1597.Peer-Reviewed Original ResearchConceptsPilomyxoid astrocytomaPediatric patientsVariant allele frequencyHypothalamic/chiasmatic regionPathologic tissue diagnosisTreatment-related morbidityHigh recurrence ratePI3K/mTOR inhibitionYears of ageExome sequencing resultsSimilar time pointsWhole exome sequencing resultsHypothalamic dysfunctionClinical presentationSurgical managementRecurrence rateShorter survivalAggressive subtypeVision lossChiasmatic regionTissue diagnosisPatient tumorsRadiation therapyFGFR inhibitorsFGFR1 mutations