2023
The importance of escalating molecular diagnostics in patients with low-grade pediatric brain cancer
Al Assaad M, Gundem G, Liechty B, Sboner A, Medina J, Papaemmanuil E, Sternberg C, Marks A, Souweidane M, Greenfield J, Tran I, Snuderl M, Elemento O, Imielinski M, Pisapia D, Mosquera J. The importance of escalating molecular diagnostics in patients with low-grade pediatric brain cancer. Molecular Case Studies 2023, 9: a006275. PMID: 37652664, PMCID: PMC10815291, DOI: 10.1101/mcs.a006275.Peer-Reviewed Original ResearchMeSH KeywordsAstrocytomaBrain NeoplasmsChildHumansMaleMutationPathology, MolecularProto-Oncogene Proteins B-rafConceptsPediatric brain cancerPilocytic astrocytomaTargeted next-generation sequencingCase of pilocytic astrocytomaTumor size reductionLow-grade neoplasmsBrain cancerPediatric brain tumorsInternal tandem duplicationImpact treatment decisionsWhole-genome sequencingMolecular diagnosticsRNA-seq analysisRAS pathway activationNext-generation sequencingThalamic tumorsStable diseaseSuprasellar tumorsDabrafenib treatmentMultiple resectionsImprove patient outcomesTumor progressionWhole genomeRNA-seqTumor
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 ResearchMeSH KeywordsAstrocytomaBrain NeoplasmsChildHumansMutationProto-Oncogene Proteins B-rafRetrospective StudiesConceptsPilocytic 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
Topographic correlates of driver mutations and endogenous gene expression in pediatric diffuse midline gliomas and hemispheric high-grade gliomas
Kazarian E, Marks A, Cui J, Darbinyan A, Tong E, Mueller S, Cha S, Aboian MS. Topographic correlates of driver mutations and endogenous gene expression in pediatric diffuse midline gliomas and hemispheric high-grade gliomas. Scientific Reports 2021, 11: 14377. PMID: 34257334, PMCID: PMC8277861, DOI: 10.1038/s41598-021-92943-0.Peer-Reviewed Original ResearchConceptsHigh-grade gliomasDiffuse midline gliomaPediatric diffuse midline gliomasMidline gliomaGene panel testingDriver mutationsPanel testingTumor board reviewK27M mutationPediatric patientsNormal gene expression patternsH3 K27M-mutationImaging featuresPreoperative MRIEndogenous gene expressionCerebral hemispheresGliomas correlatesNormal brainGene expression patternsMutation testingPatientsTopographic distributionGliomasM mutationIDH1 mutationDual 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 ResearchMeSH KeywordsAstrocytomaBrain NeoplasmsHumansInfantMaleMutation, MissenseReceptor, Fibroblast Growth Factor, Type 1ConceptsPilomyxoid 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
2018
Response to the BRAF/MEK inhibitors dabrafenib/trametinib in an adolescent with a BRAF V600E mutated anaplastic ganglioglioma intolerant to vemurafenib
Marks AM, Bindra RS, DiLuna ML, Huttner A, Jairam V, Kahle KT, Kieran MW. Response to the BRAF/MEK inhibitors dabrafenib/trametinib in an adolescent with a BRAF V600E mutated anaplastic ganglioglioma intolerant to vemurafenib. Pediatric Blood & Cancer 2018, 65: e26969. PMID: 29380516, DOI: 10.1002/pbc.26969.Peer-Reviewed Original ResearchConceptsAnaplastic gangliogliomaBRAF/MEK inhibitor combinationsBRAF V600ESubsequent tumor responseDabrafenib/trametinibLarge clinical trialsSquamous cell carcinomaMEK inhibitor combinationsSignificant side effectsSignificant skin reactionsCell carcinomaCase reportSkin reactionsTumor responseClinical trialsBrain tumorsInhibitor combinationsSide effectsAdolescent femalesGangliogliomaTrametinibPrevious reactionsV600EMonotherapyRash
2017
SOX2 immunity and tissue resident memory in children and young adults with glioma
Vasquez JC, Huttner A, Zhang L, Marks A, Chan A, Baehring JM, Kahle KT, Dhodapkar KM. SOX2 immunity and tissue resident memory in children and young adults with glioma. Journal Of Neuro-Oncology 2017, 134: 41-53. PMID: 28620836, PMCID: PMC7906294, DOI: 10.1007/s11060-017-2515-8.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge FactorsAntigen-Presenting CellsB7-H1 AntigenBrain NeoplasmsCell ProliferationChildChild, PreschoolCytokinesFemaleFlow CytometryGliomaHumansInfantMaleMyeloid CellsProgrammed Cell Death 1 ReceptorReceptors, ImmunologicRNA, Small InterferingSOXB1 Transcription FactorsT-LymphocytesTransfectionYoung AdultConceptsPediatric glial tumorsGlial tumorsT cellsExpression of SOX2Inhibitory checkpointsCD8/CD4 T cellsTissue-resident memory phenotypeTumor-infiltrating immune cellsTumor-infiltrating T cellsTumor cellsYoung adultsResident memory phenotypeTissue-resident memoryAnti-tumor immunityT cell immunityCD4 T cellsNatural killer cellsGlial tumor cellsNew antigenic targetsSingle-cell mass cytometryHigh mutation burdenStem cell antigenGlioma initiating cellsImmune checkpointsPD-1
2012
A Review of Secondary Central Nervous System Tumors After Treatment of a Primary Pediatric Malignancy
Marks AM, Packer RJ. A Review of Secondary Central Nervous System Tumors After Treatment of a Primary Pediatric Malignancy. Seminars In Pediatric Neurology 2012, 19: 43-48. PMID: 22641075, DOI: 10.1016/j.spen.2012.02.015.Peer-Reviewed Original ResearchMeSH KeywordsBrain NeoplasmsCentral Nervous System NeoplasmsChildHumansLeukemiaNeoplasms, Second PrimaryConceptsCentral nervous system tumorsSecondary central nervous system tumorsNervous system tumorsPediatric malignanciesSystem tumorsPrimary brain tumorsRole of treatmentCancer predisposition syndromeTreatment of leukemiaSecondary malignanciesSecondary tumorsBrain tumorsPredisposition syndromeMalignancyTumorsTreatmentRemarkable stridesSyndromeEtiologyLeukemiaIncidenceDiagnosis