Featured Publications
Disinfection of Virtual Reality Devices in Health Care Settings: In Vitro Assessment and Survey Study
Roberts S, Havill N, Flores RM, Hendrix C, Williams MJ, Feinn RS, Choi SJ, Martinello RA, Marks AM, Murray TS. Disinfection of Virtual Reality Devices in Health Care Settings: In Vitro Assessment and Survey Study. Journal Of Medical Internet Research 2022, 24: e42332. PMID: 36269222, PMCID: PMC9756115, DOI: 10.2196/42332.Peer-Reviewed Original ResearchNFB-05. A family-centered neurocutaneous syndrome clinic in the age of targeted therapies
Marks A, Antaya R, Balsamo L, Cardinale K, Cheron R, Frumberg D, Gentile V, Habib L, Puthenpura V, Zhang H. NFB-05. A family-centered neurocutaneous syndrome clinic in the age of targeted therapies. Neuro-Oncology 2022, 24: i129-i129. PMCID: PMC9165028, DOI: 10.1093/neuonc/noac079.469.Peer-Reviewed Original ResearchTuberous sclerosisPediatric patients 2 yearsYale-New Haven Children's HospitalInoperable plexiform neurofibromasPatients 2 yearsOwn side effectsYears of ageNeurofibromatosis type 1Multidisciplinary clinicNeurocutaneous syndromeChildren's HospitalPlexiform neurofibromaNeuro-oncologySide effectsSubspecialty consultationClinicType 1Young adultsSclerosisSyndromeHospitalTherapyAgeTreatmentClinical reasoningRadiation 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 associationRacial/ethnic, socioeconomic, and geographic survival disparities in adolescents and young adults with primary central nervous system tumors
Puthenpura V, Canavan ME, Poynter JN, Roth M, Pashankar FD, Jones BA, Marks AM. Racial/ethnic, socioeconomic, and geographic survival disparities in adolescents and young adults with primary central nervous system tumors. Pediatric Blood & Cancer 2021, 68: e28970. PMID: 33704901, PMCID: PMC8221084, DOI: 10.1002/pbc.28970.Peer-Reviewed Original ResearchConceptsHazard of deathCentral nervous system tumorsNervous system tumorsRace/ethnicitySocioeconomic statusSystem tumorsMultivariate Cox proportional hazards modelNon-Hispanic black patientsNon-Hispanic white patientsPrimary central nervous system tumorsCox proportional hazards modelEnd Results (SEER) databaseRetrospective cohort studyPrimary CNS tumorsYoung adult patientsNeuro-oncology patientsProportional hazards modelLowest SES tertileLow socioeconomic statusNHB patientsAYA patientsHazard ratioNHW patientsAdult patientsCohort studyClinical Application of Digital Technologies in Adolescent and Young Adult Oncology Supportive Care
Puthenpura V, Marks AM. Clinical Application of Digital Technologies in Adolescent and Young Adult Oncology Supportive Care. Journal Of Adolescent And Young Adult Oncology 2020, 10: 127-130. PMID: 33296259, PMCID: PMC8182471, DOI: 10.1089/jayao.2020.0153.Peer-Reviewed Original Research
2023
Use of Immersive Virtual Reality Spaces to Engage Adolescent and Young Adult Patients With Cancer in Therapist-Guided Support Groups: Protocol for a Pre-Post Study
Marks A, Garbatini A, Hieftje K, Puthenpura V, Weser V, Fernandes C. Use of Immersive Virtual Reality Spaces to Engage Adolescent and Young Adult Patients With Cancer in Therapist-Guided Support Groups: Protocol for a Pre-Post Study. JMIR Research Protocols 2023, 12: e48761. PMID: 37943596, PMCID: PMC10667982, DOI: 10.2196/48761.Peer-Reviewed Original ResearchINTERNATIONAL REGISTERED REPORT IDENTIFIERYoung adult patientsSupport groupsAdult patientsYoung adultsMean attendance rateSupport group interventionNon-Hispanic blacksNon-Hispanic whitesOverall retention rateNon-Hispanic AsiansRare disease populationPeer support groupsFacilitated support groupBone marrow failureMedian ageCommon diagnosisPreliminary efficacyHematologic malignanciesDisease populationLife measuresPatientsFinal intervention sessionTransgender femalesPsychosocial supportThe 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 ResearchConceptsPediatric 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-seqTumorOUTC-08. IMPLEMENTING SOCIAL DETERMINANT OF HEALTH DATA COLLECTION FOR PEDIATRIC, ADOLESCENT AND YOUNG ADULT NEURO-ONCOLOGY PATIENTS IN THE CLINICAL TRIAL CONSORTIA SETTING: PROGRESS AND CHALLENGES
Puthenpura V, Bona K, Cooney T, Coven S, Davidson T, Fouladi M, Kline C, Leary S, Mueller S, Green A, Marks A. OUTC-08. IMPLEMENTING SOCIAL DETERMINANT OF HEALTH DATA COLLECTION FOR PEDIATRIC, ADOLESCENT AND YOUNG ADULT NEURO-ONCOLOGY PATIENTS IN THE CLINICAL TRIAL CONSORTIA SETTING: PROGRESS AND CHALLENGES. Neuro-Oncology 2023, 25: i37-i37. PMCID: PMC10260067, DOI: 10.1093/neuonc/noad073.145.Peer-Reviewed Original ResearchNeuro-oncology patientsMulticenter clinical trialClinical trialsSocial determinantsSocioeconomic statusClinical Trials ConsortiumLong-term complicationsAYA cancer patientsAdverse social determinantsSocioeconomic status dataAdverse SDOHSurvival disparitiesMultidisciplinary careTherapy adherenceToxicity incidenceCancer patientsTrial therapyPersonal socioeconomic statusOutcome disparitiesTrial designSDOHPatientsHealth equityHealth data collectionTrialsPersonality Changes and Staring Spells in a 12-Year-Old Child: A Case Report Incorporating ChatGPT, a Natural Language Processing Tool Driven by Artificial Intelligence (AI)
Puthenpura V, Nadkarni S, DiLuna M, Hieftje K, Marks A. Personality Changes and Staring Spells in a 12-Year-Old Child: A Case Report Incorporating ChatGPT, a Natural Language Processing Tool Driven by Artificial Intelligence (AI). Cureus 2023, 15: e36408. PMID: 37090271, PMCID: PMC10115215, DOI: 10.7759/cureus.36408.Peer-Reviewed Original ResearchLow-grade gliomasIntracranial tumorsPersonality changesTreatment of LGGCentral nervous system tumorsMain presenting featuresBroad differential diagnosisNervous system tumorsPresenting featuresPediatric patientsCase reportSystem tumorsFavorable outcomeEndocrine conditionsMain symptomsDifferential diagnosisIntracranial neoplasmsBrain tumorsGrade gliomasEarly identificationSymptomsTumorsOlder childrenCommon typeNatural language processing toolsLoss to follow‐up of minorities, adolescents, and young adults on clinical trials: A report from the Children's Oncology Group
Puthenpura V, Ji L, Xu X, Roth M, Freyer D, Frazier A, Marks A, Pashankar F. Loss to follow‐up of minorities, adolescents, and young adults on clinical trials: A report from the Children's Oncology Group. Cancer 2023, 129: 1547-1556. PMID: 36813754, PMCID: PMC10357561, DOI: 10.1002/cncr.34701.Peer-Reviewed Original ResearchConceptsClinical trial participantsNon-Hispanic blacksTrial participantsHazard ratioOncology GroupClinical trialsMultivariable Cox proportional hazards regression modelsCox proportional hazards regression modelChildren's Oncology Group trialsProportional hazards regression modelsYoung adultsAdjusted hazard ratioChildren's Oncology GroupLong-term complicationsLong-term outcomesLog-rank testHazards regression modelsPediatric clinical trialsCancer clinical trial participantsLow socioeconomic status areasLong-term survivalEthnic minority patientsQuality of lifeLow socioeconomic statusNon-Hispanic whites
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
CLRM-03. BGB-290 AND TEMOZOLOMIDE IN TREATING ISOCITRATE DEHYDROGENASE (IDH)1/2-MUTANT GRADE I-IV GLIOMAS – A NOVEL MODEL OF AYA TRIAL DEVELOPMENT AND DEPLOYMENT
Marks A, Bindra R. CLRM-03. BGB-290 AND TEMOZOLOMIDE IN TREATING ISOCITRATE DEHYDROGENASE (IDH)1/2-MUTANT GRADE I-IV GLIOMAS – A NOVEL MODEL OF AYA TRIAL DEVELOPMENT AND DEPLOYMENT. Neuro-Oncology Advances 2021, 3: iv1-iv1. PMCID: PMC8453774, DOI: 10.1093/noajnl/vdab112.002.Peer-Reviewed Original ResearchAdult Brain Tumor ConsortiumAYA populationAYA patientsClinical trialsIDH1/2 mutationsPatients ages 13Years of ageInternational clinical trialsYoung adult populationTemozolomide chemotherapyInitial dosingLack of enrollmentGrade IPsychosocial assessmentPARP inhibitor sensitivityUnique cohortDisease processMost trialsGlioma populationInternational trialTrial developmentAdult populationSpecific trialsPatientsTrialsTopographic 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 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
2020
Persistent STAG2 mutation despite multimodal therapy in recurrent pediatric glioblastoma
Hong CS, Vasquez JC, Kundishora AJ, Elsamadicy AA, Beckta JM, Sule A, Marks AM, Leelatian N, Huttner A, Bindra RS, DiLuna ML, Kahle KT, Erson-Omay EZ. Persistent STAG2 mutation despite multimodal therapy in recurrent pediatric glioblastoma. Npj Genomic Medicine 2020, 5: 23. PMID: 32528726, PMCID: PMC7264170, DOI: 10.1038/s41525-020-0130-7.Peer-Reviewed Original ResearchPediatric patientsStandard chemoradiationSTAG2 mutationsTumor clonesPediatric glioblastomaGross total resectionMultiple surgical resectionsTime of recurrenceHigh-grade gliomasDNA damage repair defectsWhole-exome sequencingVariety of treatmentsSurgical resectionNovel deleterious mutationsStandard therapyTotal resectionVaccine therapyClinical evidencePreclinical dataTreatment optionsMultimodal therapyPreclinical studiesClinical settingTherapyAdult counterparts
2019
Genomic alterations underlying spinal metastases in pediatric H3K27M-mutant pineal parenchymal tumor of intermediate differentiation: case report.
Fomchenko EI, Erson-Omay EZ, Kundishora AJ, Hong CS, Daniel AA, Allocco A, Duy PQ, Darbinyan A, Marks AM, DiLuna ML, Kahle KT, Huttner A. Genomic alterations underlying spinal metastases in pediatric H3K27M-mutant pineal parenchymal tumor of intermediate differentiation: case report. Journal Of Neurosurgery Pediatrics 2019, 25: 121-130. PMID: 31653819, DOI: 10.3171/2019.8.peds18664.Peer-Reviewed Original ResearchPineal parenchymal tumorsPediatric midline gliomasWhole-exome sequencingH3K27M mutationParenchymal tumorsIntermediate differentiationMidline gliomaM mutationClonality analysisTumors harbored mutationsHigh-grade lesionsCurative surgical optionVaried morphological appearancesChromosome 17 lossSomatic mutationsSpinal metastasesClinical presentationDismal prognosisSpine metastasesSurgical managementSurgical optionsMidline tumorsCase reportHarbored mutationsNF1 lossHGG-01. ACQUISITION OF A HYPERMUTATOR PHENOTYPE UNDERLYING DISTANT SPINAL INTRAMEDULLARY SPREAD IN HISTONE-MUTATED DIFFUSE MIDLINE GLIOMA
Hong C, Kundishora A, Fomchenko E, Huttner A, Erson-Omay Z, Marks A, Diluna M, Kahle K. HGG-01. ACQUISITION OF A HYPERMUTATOR PHENOTYPE UNDERLYING DISTANT SPINAL INTRAMEDULLARY SPREAD IN HISTONE-MUTATED DIFFUSE MIDLINE GLIOMA. Neuro-Oncology 2019, 21: ii86-ii86. PMCID: PMC6477387, DOI: 10.1093/neuonc/noz036.095.Peer-Reviewed Original ResearchIntramedullary spinal metastasesDiffuse midline gliomaMidline gliomaWhole-exome sequencingSpinal metastasesKey oncogenic driver mutationsSomatic mutationsExome sequencingLower extremity weaknessDistant metastatic spreadHigh-grade astrocytic tumorsGenetic alterationsOncogenic driver mutationsSpinal metastatic lesionsProton beam radiationThirteen-year-old maleSpinal intramedullaryExtremity weaknessDistant spreadMetastatic lesionsLumbar tumorsPineal lesionsPoor prognosisTumor spreadPineal tumors
2018
PDTM-35. GENETIC ALTERATIONS DRIVING SPINAL INTRAMEDULLARY METASTASES OF A HISTONE-MUTATED DIFFUSE MIDLINE PINEAL GLIOMA
Hong C, Kundishora A, Omay E, Huttner A, Marks A, Diluna M, Kahle K. PDTM-35. GENETIC ALTERATIONS DRIVING SPINAL INTRAMEDULLARY METASTASES OF A HISTONE-MUTATED DIFFUSE MIDLINE PINEAL GLIOMA. Neuro-Oncology 2018, 20: vi211-vi211. PMCID: PMC6217703, DOI: 10.1093/neuonc/noy148.875.Peer-Reviewed Original ResearchDiffuse midline gliomaMidline gliomaH3K27M mutationGenetic alterationsM mutationIntramedullary spinal metastasesSpinal intramedullary metastasisDistant metastatic spreadLower extremity weaknessMismatch repair gene mutationsKey driver mutationsRepair gene mutationsProton beam radiationWhole-exome sequencingThe coexistence of lupus erythematosus panniculitis and subcutaneous panniculitislike T-cell lymphoma in the same patient
Wu X, Subtil A, Craiglow B, Watsky K, Marks A, Ko C. The coexistence of lupus erythematosus panniculitis and subcutaneous panniculitislike T-cell lymphoma in the same patient. JAAD Case Reports 2018, 4: 179-184. PMID: 29892661, PMCID: PMC5993551, DOI: 10.1016/j.jdcr.2017.08.021.Peer-Reviewed Original ResearchResponse 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