2019
Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome
Brown AL, de Smith AJ, Gant VU, Yang W, Scheurer ME, Walsh KM, Chernus JM, Kallsen NA, Peyton SA, Davies GE, Ehli EA, Winick N, Heerema NA, Carroll AJ, Borowitz MJ, Wood BL, Carroll WL, Raetz EA, Feingold E, Devidas M, Barcellos LF, Hansen HM, Morimoto L, Kang AY, Smirnov I, Healy J, Laverdière C, Sinnett D, Taub JW, Birch JM, Thompson P, Spector LG, Pombo-de-Oliveira MS, DeWan AT, Mullighan CG, Hunger SP, Pui CH, Loh ML, Zwick ME, Metayer C, Ma X, Mueller BA, Sherman SL, Wiemels JL, Relling MV, Yang JJ, Lupo PJ, Rabin KR. Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome. Blood 2019, 134: 1227-1237. PMID: 31350265, PMCID: PMC6788009, DOI: 10.1182/blood.2018890764.Peer-Reviewed Original ResearchMeSH KeywordsChildCyclin-Dependent Kinase Inhibitor p16DNA-Binding ProteinsDown SyndromeGATA3 Transcription FactorGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIkaros Transcription FactorPolymorphism, Single NucleotidePrecursor Cell Lymphoblastic Leukemia-LymphomaTranscription FactorsConceptsFirst genome-wide association studySusceptibility lociGenome-wide association studiesGenome-wide significanceFurther biological insightsGenetic variationEnhancer activityRisk lociBiological insightsLymphoblastoid cell linesAssociation studiesDifferential protein bindingFunctional significanceLociRisk allele frequenciesCell linesAllele frequenciesHigh penetranceRisk allelesProtein bindingCDKN2AGenetic susceptibilityHigher proliferationPenetranceAllele associations
2014
PTPRG inhibition by DNA methylation and cooperation with RAS gene activation in childhood acute lymphoblastic leukemia
Xiao J, Lee S, Xiao Y, Ma X, Houseman EA, Hsu L, Roy R, Wrensch M, de Smith A, Chokkalingam A, Buffler P, Wiencke JK, Wiemels JL. PTPRG inhibition by DNA methylation and cooperation with RAS gene activation in childhood acute lymphoblastic leukemia. International Journal Of Cancer 2014, 135: 1101-1109. PMID: 24496747, PMCID: PMC4776754, DOI: 10.1002/ijc.28759.Peer-Reviewed Original ResearchMeSH KeywordsCell Transformation, NeoplasticChildChild, PreschoolDNA MethylationDNA-Binding ProteinsEnzyme ActivationEpigenesis, GeneticExtracellular Signal-Regulated MAP KinasesGene Expression Regulation, LeukemicHEK293 CellsHumansMutationPhosphorylationPrecursor Cell Lymphoblastic Leukemia-LymphomaPromoter Regions, GeneticRas ProteinsReceptor-Like Protein Tyrosine Phosphatases, Class 5Transcription FactorsTranscriptional ActivationConceptsDNA methylationPTPRG expressionDNA methylation profilesDNA methylation statusDephosphorylation of ERKMember genesEpigenetic mechanismsGene activationMutant RASRAS gene activationMethylation profilesGene expressionPtprg geneMethylation statusCell growthAdditional roleMethylationPotential therapeutic targetCell linesGenetic characteristicsGenesLeukemia phenotypeTherapeutic targetMutationsExpression
2004
Hypermethylation of the 5′ CpG Island of the FHIT Gene Is Associated with Hyperdiploid and Translocation-Negative Subtypes of Pediatric Leukemia
Zheng S, Ma X, Zhang L, Gunn L, Smith MT, Wiemels JL, Leung K, Buffler PA, Wiencke JK. Hypermethylation of the 5′ CpG Island of the FHIT Gene Is Associated with Hyperdiploid and Translocation-Negative Subtypes of Pediatric Leukemia. Cancer Research 2004, 64: 2000-2006. PMID: 15026336, DOI: 10.1158/0008-5472.can-03-2387.Peer-Reviewed Original ResearchMeSH KeywordsAcid Anhydride HydrolasesAdolescentAntimetabolites, AntineoplasticAzacitidineB-LymphocytesChildChild, PreschoolChromosomes, Human, Pair 12Chromosomes, Human, Pair 21CpG IslandsDecitabineDiploidyDNA MethylationDNA, NeoplasmFemaleGene DeletionGene Expression Regulation, NeoplasticHumansLeukemia, MyeloidMaleNeoplasm ProteinsPrecursor Cell Lymphoblastic Leukemia-LymphomaPromoter Regions, GeneticT-LymphocytesTranslocation, GeneticTumor Cells, CulturedConceptsPediatric leukemiaFHIT geneB cellsLeukemia cell linesFHIT methylation statusHigh WBC countPopulation-based casesChildhood leukemia patientsCell linesHyperdiploid B cellsHypermethylation of FHITPrognostic indicatorWBC countMethylation-specific PCRLeukemia patientsMyeloid leukemiaCytogenetic subtypesLoss of heterozygosityBone marrowFHIT expressionPrimary leukemiasFHIT inactivationFHIT methylationHuman malignanciesLeukemia
2002
Site-specific translocation and evidence of postnatal origin of the t(1;19) E2A-PBX1 fusion in childhood acute lymphoblastic leukemia
Wiemels JL, Leonard BC, Wang Y, Segal MR, Hunger SP, Smith MT, Crouse V, Ma X, Buffler PA, Pine SR. Site-specific translocation and evidence of postnatal origin of the t(1;19) E2A-PBX1 fusion in childhood acute lymphoblastic leukemia. Proceedings Of The National Academy Of Sciences Of The United States Of America 2002, 99: 15101-15106. PMID: 12415113, PMCID: PMC137550, DOI: 10.1073/pnas.222481199.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentArtificial Gene FusionBase SequenceChildChild, PreschoolChromosome MappingChromosomes, Human, Pair 1Chromosomes, Human, Pair 19FemaleGene RearrangementHomeodomain ProteinsHumansImmunoglobulin Heavy ChainsInfantMaleMolecular Sequence DataOncogene Proteins, FusionPolymerase Chain ReactionPrecursor Cell Lymphoblastic Leukemia-LymphomaReceptors, Antigen, T-CellRestriction MappingTranslocation, GeneticConceptsAcute lymphoblastic leukemiaLymphoblastic leukemiaTime of birthChildhood acute lymphoblastic leukemiaE2A-PBX1 fusionSubtype of leukemiaAntigen receptor rearrangementNeonatal blood spotsIg heavy chainPediatric patientsTCR rearrangementsPrenatal originReceptor rearrangementPostnatal originCell originMolecular subgroupsLeukemiaNatural historyBlood spotsGuthrie cardsPatientsCell linesChromosomal translocationsPBX1 geneGenomic fusion