2021
Exome sequencing identifies SLIT2 variants in primary CNS lymphoma
Kaulen LD, Erson‐Omay E, Henegariu O, Karschnia P, Huttner A, Günel M, Baehring JM. Exome sequencing identifies SLIT2 variants in primary CNS lymphoma. British Journal Of Haematology 2021, 193: 375-379. PMID: 33481259, DOI: 10.1111/bjh.17319.Peer-Reviewed Original ResearchConceptsPrimary central nervous system lymphomaShorter progression-free survivalCentral nervous system lymphomaRole of SLIT2Primary CNS lymphomaProgression-free survivalLarger validation cohortNervous system lymphomaShorter overall survivalPossible prognostic implicationsWarrants further investigationCNS lymphomaTumor DNA samplesOverall survivalPCNSL patientsSystem lymphomaPrognostic implicationsValidation cohortPCNSL pathogenesisLymphoid malignanciesFunction variantsTumor suppressor geneExome sequencingLuciferase assayLymphoma
2020
Primary dural lymphomas: Clinical presentation, management, and outcome
Karschnia P, Batchelor TT, Jordan JT, Shaw B, Winter SF, Barbiero FJ, Kaulen LD, Thon N, Tonn J, Huttner AJ, Fulbright RK, Loeffler J, Dietrich J, Baehring JM. Primary dural lymphomas: Clinical presentation, management, and outcome. Cancer 2020, 126: 2811-2820. PMID: 32176324, DOI: 10.1002/cncr.32834.Peer-Reviewed Original ResearchConceptsPrimary dural lymphomaPrimary CNS lymphomaNon-Hodgkin lymphomaCNS lymphomaOverall survivalDural lymphomaPrimary central nervous system lymphomaT-cell non-Hodgkin lymphomaB-cell non-Hodgkin lymphomaCentral nervous system lymphomaLarge B-cell lymphomaMedian apparent diffusion coefficient (ADC) valuesAvid contrast enhancementMedian overall survivalCerebrospinal fluid analysisNervous system lymphomaMarginal zone lymphomaB-cell lymphomaExtra-axial massApparent diffusion coefficient (ADC) valuesMassachusetts General HospitalAggressive surgeryMultimodality treatmentSystem lymphomaSystemic involvement
2019
Prognostic markers for immunodeficiency-associated primary central nervous system lymphoma
Kaulen LD, Galluzzo D, Hui P, Barbiero F, Karschnia P, Huttner A, Fulbright R, Baehring JM. Prognostic markers for immunodeficiency-associated primary central nervous system lymphoma. Journal Of Neuro-Oncology 2019, 144: 107-115. PMID: 31190317, DOI: 10.1007/s11060-019-03208-w.Peer-Reviewed Original ResearchConceptsPrimary central nervous system lymphomaDiffusion-weighted imaging patternsMagnetic resonance imagingCentral nervous system lymphomaNervous system lymphomaSystem lymphomaPeripheral enhancementDWI patternsPCNSL casesImaging featuresPrognostic markerHuman immunodeficiency virus (HIV) infectionKaplan-Meier survival analysisDiffuse large B-cell lymphomaYale-New Haven HospitalLarge B-cell lymphomaMedian overall survivalImmunodeficiency virus infectionPredictors of survivalSolid organ transplantationImmunoglobulin heavy chain gene rearrangementPeripheral contrast enhancementLog-rank testMajor risk factorHeavy chain gene rearrangement
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
2015
Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis
Erson-Omay EZ, Çağlayan AO, Schultz N, Weinhold N, Omay SB, Özduman K, Köksal Y, Li J, Serin Harmancı A, Clark V, Carrión-Grant G, Baranoski J, Çağlar C, Barak T, Coşkun S, Baran B, Köse D, Sun J, Bakırcıoğlu M, Moliterno Günel J, Pamir MN, Mishra-Gorur K, Bilguvar K, Yasuno K, Vortmeyer A, Huttner AJ, Sander C, Günel M. Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis. Neuro-Oncology 2015, 17: 1356-1364. PMID: 25740784, PMCID: PMC4578578, DOI: 10.1093/neuonc/nov027.Peer-Reviewed Original ResearchConceptsHigh-grade gliomasSomatic POLE mutationsPOLE mutationsMalignant high-grade gliomasLonger progression-free survivalProgression-free survivalSomatic mutationsOverall survivalPediatric patientsBetter prognosisClinical featuresImproved prognosisClinical behaviorImmune cellsBizarre cellsAggressive formGlioblastoma multiformeDisease pathophysiologyMolecular subgroupsHomozygous germline mutationGermline mutationsPrognosisGlioma subtypesComprehensive genomic analysisDistinct subgroups
2012
Overview of Primary Brain Tumors Pathologic Classification, Epidemiology, Molecular Biology, and Prognostic Markers
Huttner A. Overview of Primary Brain Tumors Pathologic Classification, Epidemiology, Molecular Biology, and Prognostic Markers. Hematology/Oncology Clinics Of North America 2012, 26: 715-732. PMID: 22794280, DOI: 10.1016/j.hoc.2012.05.004.Peer-Reviewed Original ResearchConceptsBrain tumor patientsBrain tumor tissueMolecular diagnostic testingMolecular diagnostic testsMultidisciplinary managementPrimary brainNeuroepithelial tumorsHistopathological assessmentPathologic classificationPrognostic markerTumor patientsClinical significanceBrain tumorsClinical practiceTumor tissueDiagnostic testingDiagnostic testsMolecular testsTumorsTumor classificationEpigenetic changesPatientsOverview of classificationPrognosisNeuropathology