Featured Publications
Radiation Necrosis with Proton Therapy in a Patient with Aarskog-Scott Syndrome and Medulloblastoma
Puthenpura V, DeNunzio NJ, Zeng X, Giantsoudi D, Aboian M, Ebb D, Kahle KT, Yock TI, Marks AM. Radiation Necrosis with Proton Therapy in a Patient with Aarskog-Scott Syndrome and Medulloblastoma. International Journal Of Particle Therapy 2021, 8: 58-65. PMID: 35127977, PMCID: PMC8768897, DOI: 10.14338/ijpt-21-00013.1.Peer-Reviewed Original ResearchRadiation necrosisAarskog-Scott syndromeProton beam radiation therapyHigh-dose dexamethasoneGross total resectionHyperbaric oxygen therapyPosterior fossa tumorsBeam radiation therapyGroup 3 medulloblastomaCancer predisposition syndromeRare genetic syndromeConcurrent vincristineTruncal weaknessRadiographic improvementClinical stabilizationOxygen therapyTotal resectionPathologic correlatesGait instabilityFossa tumorsRadiation therapyPossible associationSyndromeDevelopment of medulloblastomaPotential association
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