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 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-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 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
2017
SOX2 as a target for immunotherapy of pediatric gliomas.
Vasquez J, Huttner A, Zhang L, Marks A, Chan A, Baehring J, Kahle K, Dhodapkar K. SOX2 as a target for immunotherapy of pediatric gliomas. Journal Of Clinical Oncology 2017, 35: e22012-e22012. DOI: 10.1200/jco.2017.35.15_suppl.e22012.Peer-Reviewed Original ResearchTumor-infiltrating T cellsImmune checkpoint blockadeT cellsPediatric glial tumorsGlial tumorsExpression of SOX2Inhibitory checkpointsCheckpoint blockadeTumor immunityGrade gliomasTissue-resident memory phenotypePediatric gliomasTumor-infiltrating immune cellsTumor cellsResident memory phenotypeT-cell proliferation assaysImmune checkpoint inhibitorsDendritic cell vaccinesPD-1 expressionSubset of CD4Anti-tumor immunityCD8 T cellsT cell immunityEffective tumor immunityPediatric brain tumors