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
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