2024
P27.10.B FACTORS INFLUENCING TIMELY DIAGNOSIS IN NEUROLYMPHOMATOSIS
Doubrovinskaia S, Egert A, Karschnia P, Scheffler G, Huttner A, Fulbright R, Baehring J, Kaulen L. P27.10.B FACTORS INFLUENCING TIMELY DIAGNOSIS IN NEUROLYMPHOMATOSIS. Neuro-Oncology 2024, 26: v138-v139. PMCID: PMC11485484, DOI: 10.1093/neuonc/noae144.472.Peer-Reviewed Original ResearchNon-Hodgkin's lymphomaPeripheral nervous systemNerve root lesionsDiagnostic intervalRelapse of NHLSymptom onsetAssociated with early diagnosisTertiary referral centerAtypical clinical presentationRoot lesionsCerebrospinal fluid examinationDiagnostic work-upYale Cancer CenterPainful polyneuropathyAsymmetric neuropathyClinical presentationReferral centerFluid examinationQuality control databaseDiagnostic delayFDG-PETPrimary diseaseUnivariate analysisConventional CTNeurolymphomatosis
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
2020
Primary melanotic tumors of the nervous system: a consecutive case series
Grosshans H, Huttner A, Piepmeier J, Kaulen L, Fulbright R, Baehring J, Karschnia P. Primary melanotic tumors of the nervous system: a consecutive case series. European Journal Of Neurology 2020, 27: 2303-2307. PMID: 32654331, DOI: 10.1111/ene.14437.Peer-Reviewed Original ResearchConceptsPrimary melanotic tumorsNervous systemRelapsed diseaseClinical presentationMelanotic lesionsFavorable outcomeRadiation therapyPre-contrast T1-weighted imagingRelative incidenceMelanotic tumorsHomogenous contrast enhancementYale Cancer CenterAggressive surgical treatmentConsecutive case seriesPsammomatous melanotic schwannomaNervous system tumorsT1-weighted imagingT2-weighted imagingTumor mass effectMagnetic resonance imagingMelanin-containing cellsS100 positivitySurgical resectionSurgical treatmentTumor RegistryClinical characteristics of fibroblast growth factor receptor 3 antibody‐related polyneuropathy: a retrospective study
Kovvuru S, Cardenas Y, Huttner A, Nowak R, Roy B. Clinical characteristics of fibroblast growth factor receptor 3 antibody‐related polyneuropathy: a retrospective study. European Journal Of Neurology 2020, 27: 1310-1318. PMID: 32068339, DOI: 10.1111/ene.14180.Peer-Reviewed Original ResearchConceptsChronic inflammatory neuropathiesInflammatory neuropathiesSensory neuropathyFGFR3 antibodiesDistal lower extremity weaknessIntravenous immunoglobulin responseLower extremity paresthesiasCommon presenting symptomLower extremity weaknessRetrospective chart reviewPure sensory neuropathyHistory of cancerDistal sensationMotor findingsPresenting symptomChart reviewClinical characteristicsDemyelinating featuresNerve biopsySymptom onsetUnsteady gaitClinical presentationFoot dropRetrospective studyAutoimmune diseases
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 lossLeptomeningeal dissemination of low-grade neuroepithelial CNS tumors in adults: a 15-year experience
Karschnia P, Barbiero FJ, Schwaiblmair MH, Kaulen LD, Piepmeier JM, Huttner AJ, Becker KP, Fulbright RK, Baehring JM. Leptomeningeal dissemination of low-grade neuroepithelial CNS tumors in adults: a 15-year experience. Neuro-Oncology Practice 2019, 7: 118-126. PMID: 32257290, PMCID: PMC7104875, DOI: 10.1093/nop/npz020.Peer-Reviewed Original ResearchLeptomeningeal disseminationRare complicationCNS tumorsInitial tumor diagnosisMedian overall survivalYale Cancer CenterPredictors of outcomeMean time intervalAggressive treatmentOverall survivalSystemic therapyConsecutive patientsSystemic treatmentTumor depositsClinical presentationCancer CenterHistopathological diagnosisHistological entityClinical signsTimely diagnosisNeuro-oncologyTumor spectrumEarly symptomsVariable enhancementRelative incidencePrimary dural lymphomas: clinical presentation, management, and outcome in a bi-institutional study (S14.008)
Karschnia P, Barbiero F, Jordan J, Batchelor T, Shaw B, Huttner A, Fulbright R, Dietrich J, Baehring J. Primary dural lymphomas: clinical presentation, management, and outcome in a bi-institutional study (S14.008). Neurology 2019, 92 DOI: 10.1212/wnl.92.15_supplement.s14.008.Peer-Reviewed Original ResearchBi-institutional studyClinical presentation
2014
Thoracic Epidural Teratoma: Case Report and Review of the Literature
Quon JL, Grant RA, Huttner AJ, Duncan CC. Thoracic Epidural Teratoma: Case Report and Review of the Literature. Clinical Pathology 2014, 7: cpath.s14723. PMID: 24940089, PMCID: PMC4055415, DOI: 10.4137/cpath.s14723.Peer-Reviewed Original ResearchSpinal teratomaClinical presentationSevere spinal cord compressionDiagnosis of teratomaSpinal cord compressionGross total resectionSpinal cord tumorsHeterogeneous contrast enhancementSignificant neurologic compromiseClinician's differentialMarked spasticityAmbulatory functionCord compressionCord tumorsTotal resectionNeurologic compromiseEpidural tumorCystic massRare entityCase reportRare subsetMotor milestonesTumorsTeratomaPathophysiology