2023
Clinical utility of whole-genome DNA methylation profiling as a primary molecular diagnostic assay for central nervous system tumors—A prospective study and guidelines for clinical testing
Galbraith K, Vasudevaraja V, Serrano J, Shen G, Tran I, Abdallat N, Wen M, Patel S, Movahed-Ezazi M, Faustin A, Spino-Keeton M, Roberts L, Maloku E, Drexler S, Liechty B, Pisapia D, Krasnozhen-Ratush O, Rosenblum M, Shroff S, Boué D, Davidson C, Mao Q, Suchi M, North P, Hopp A, Segura A, Jarzembowski J, Parsons L, Johnson M, Mobley B, Samore W, McGuone D, Gopal P, Canoll P, Horbinski C, Fullmer J, Farooqi M, Gokden M, Wadhwani N, Richardson T, Umphlett M, Tsankova N, DeWitt J, Sen C, Placantonakis D, Pacione D, Wisoff J, Hidalgo E, Harter D, William C, Cordova C, Kurz S, Barbaro M, Orringer D, Karajannis M, Sulman E, Gardner S, Zagzag D, Tsirigos A, Allen J, Golfinos J, Snuderl M. Clinical utility of whole-genome DNA methylation profiling as a primary molecular diagnostic assay for central nervous system tumors—A prospective study and guidelines for clinical testing. Neuro-Oncology Advances 2023, 5: vdad076. PMID: 37476329, PMCID: PMC10355794, DOI: 10.1093/noajnl/vdad076.Peer-Reviewed Original ResearchCNS tumorsProspective studyHistologic diagnosisCentral nervous system tumorsDiagnostic accuracyCentral nervous system cancerPrimary CNS tumorsNervous system tumorsNervous system cancersCancer-associated deathsClinical trial designDiagnostic errorsPrimary diagnostic methodDNA methylation profilingMolecular diagnostic testsPrognostic subclassificationPediatric patientsHistologic subtypeWhole genome DNA methylation profilingDefinitive diagnosisPrognostic informationSystem tumorsSystem cancersPatient managementClinical utility
2016
An Innovative Field-Applicable Molecular Test to Diagnose Cutaneous Leishmania Viannia spp. Infections
Saldarriaga OA, Castellanos-Gonzalez A, Porrozzi R, Baldeviano GC, Lescano AG, de Los Santos MB, Fernandez OL, Saravia NG, Costa E, Melby PC, Travi BL. An Innovative Field-Applicable Molecular Test to Diagnose Cutaneous Leishmania Viannia spp. Infections. PLOS Neglected Tropical Diseases 2016, 10: e0004638. PMID: 27115155, PMCID: PMC4845993, DOI: 10.1371/journal.pntd.0004638.Peer-Reviewed Original ResearchConceptsMucosal leishmaniasisDiagnostic testsL. braziliensisPrimary health systemL. panamensisRPA-LFSensitive diagnostic testMost endemic regionsMolecular diagnostic testsChronic lesionsReal-time PCRCutaneous leishmaniasisEndemic regionsParasite burdenHealth systemClinical validationLeishmaniasisL. naiffiMolecular testsParasite DNALeishmania sppTime PCRClinical samplesViannia subgenusRecombinase polymerase amplification
2014
Functional Identification of Cancer-Specific Methylation of CDO1, HOXA9, and TAC1 for the Diagnosis of Lung Cancer
Wrangle J, Machida EO, Danilova L, Hulbert A, Franco N, Zhang W, Glöckner SC, Tessema M, Van Neste L, Easwaran H, Schuebel KE, Licchesi J, Hooker CM, Ahuja N, Amano J, Belinsky SA, Baylin SB, Herman JG, Brock MV. Functional Identification of Cancer-Specific Methylation of CDO1, HOXA9, and TAC1 for the Diagnosis of Lung Cancer. Clinical Cancer Research 2014, 20: 1856-1864. PMID: 24486589, PMCID: PMC4019442, DOI: 10.1158/1078-0432.ccr-13-2109.Peer-Reviewed Original ResearchConceptsNon-small cell lung cancerThree-gene panelLung cancerIndependent cohortPrimary NSCLC samplesCell lung cancerNSCLC cell linesNovel diagnostic biomarkersAdjuvant chemotherapyMolecular diagnostic testsCancer Genome AtlasCancer mortalityCancer-specific methylationSurgical specimensNSCLC samplesMolecular stagingEarly diagnosisDiagnostic biomarkersNormal tissuesDiagnostic testsCohortCancerGenome AtlasMethylation biomarkersCell lines
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
2010
Predicting prognosis of breast cancer with gene signatures: are we lost in a sea of data?
Iwamoto T, Pusztai L. Predicting prognosis of breast cancer with gene signatures: are we lost in a sea of data? Genome Medicine 2010, 2: 81. PMID: 21092148, PMCID: PMC3016623, DOI: 10.1186/gm202.Peer-Reviewed Original Research
2008
Effect of Molecular Disease Subsets on Disease-Free Survival in Randomized Adjuvant Chemotherapy Trials for Estrogen Receptor–Positive Breast Cancer
Pusztai L, Broglio K, Andre F, Symmans WF, Hess KR, Hortobagyi GN. Effect of Molecular Disease Subsets on Disease-Free Survival in Randomized Adjuvant Chemotherapy Trials for Estrogen Receptor–Positive Breast Cancer. Journal Of Clinical Oncology 2008, 26: 4679-4683. PMID: 18662965, DOI: 10.1200/jco.2008.17.2544.Peer-Reviewed Original ResearchConceptsDisease-free survivalER-positive breast cancerAdjuvant chemotherapy trialsProportion of patientsBreast cancerChemotherapy trialsRS patientsEstrogen receptor-positive breast cancerRandomized adjuvant chemotherapy trialReceptor-positive breast cancerFuture adjuvant studiesProportion of casesTwo-arm clinical trialChemotherapy decreasesMolecular diagnostic testsAdjuvant chemotherapyEndocrine therapyAdjuvant studiesDisease subsetsPositive cancersClinical trialsDFS estimatesRisk groupsEstrogen receptorMolecular subtypes
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