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
2009
Primary, non-exophytic, optic nerve germ cell tumors
DiLuna ML, Two AM, Levy GH, Patel T, Huttner AJ, Duncan CC, Piepmeier JM. Primary, non-exophytic, optic nerve germ cell tumors. Journal Of Neuro-Oncology 2009, 95: 437-443. PMID: 19554263, DOI: 10.1007/s11060-009-9941-1.Peer-Reviewed Original ResearchConceptsGerm cell tumorsOptic chiasmatic gliomasMalignant mixed germ cell tumorMixed germ cell tumorOptic chiasmCell tumorsOptic chiasm tumorAdrenal axis dysfunctionSub-frontal approachChiasm gliomaChiasmatic gliomasAxis dysfunctionBiopsy confirmationProgressive symptomsVisual lossCase seriesFirst patientTreatment regimensPterional craniotomyDiabetes insipidusTissue diagnosisTissue biopsiesTumorsPatientsChiasm