2021
The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis
Muskens IS, Li S, Jackson T, Elliot N, Hansen HM, Myint SS, Pandey P, Schraw JM, Roy R, Anguiano J, Goudevenou K, Siegmund KD, Lupo PJ, de Bruijn MFTR, Walsh KM, Vyas P, Ma X, Roy A, Roberts I, Wiemels JL, de Smith AJ. The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis. Nature Communications 2021, 12: 821. PMID: 33547282, PMCID: PMC7865055, DOI: 10.1038/s41467-021-21064-z.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesCore Binding Factor Alpha 2 SubunitCpG IslandsDNA MethylationDown SyndromeEpigenesis, GeneticFemaleFetusGATA1 Transcription FactorGenome, HumanGenome-Wide Association StudyHematopoiesisHematopoietic Stem CellsHumansInfant, NewbornLiverMalePromoter Regions, GeneticProto-Oncogene Protein c-fli-1ConceptsDNA methylationGenome-wide impactGenome-wide effectsGenome-wide perturbationsPromoter/enhancer regionEpigenome-wide association studiesAssociation study resultsGene expression changesHematopoietic stem/progenitor cellsCell-type heterogeneityStem/progenitor cellsEpigenome-wide significant CpGsHematopoietic developmentDifferential methylationEpigenetic changesGene expressionPromoter regionEnhancer regionExpression changesAssociation studiesSignificant CpGsImportant regulatorSignificant hypermethylationHematopoietic cellsMethylation
2006
Cytogenetics of Hispanic and White Children with Acute Lymphoblastic Leukemia in California
Aldrich MC, Zhang L, Wiemels JL, Ma X, Loh ML, Metayer C, Selvin S, Feusner J, Smith MT, Buffler PA. Cytogenetics of Hispanic and White Children with Acute Lymphoblastic Leukemia in California. Cancer Epidemiology Biomarkers & Prevention 2006, 15: 578-581. PMID: 16537719, DOI: 10.1158/1055-9965.epi-05-0833.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAge DistributionCaliforniaChildChild, PreschoolCohort StudiesCore Binding Factor Alpha 2 SubunitCytogeneticsFemaleGene Expression Regulation, NeoplasticGenetic MarkersGenetic Predisposition to DiseaseHispanic or LatinoHumansIn Situ Hybridization, FluorescenceIncidenceInfantMaleOncogene Proteins, FusionPloidiesPrecursor Cell Lymphoblastic Leukemia-LymphomaProbabilityProspective StudiesRisk FactorsSensitivity and SpecificitySeverity of Illness IndexSex DistributionSurvival RateWhite PeopleConceptsAcute lymphoblastic leukemia patientsNon-Hispanic whitesLymphoblastic leukemia patientsLeukemia patientsB-lineage acute lymphoblastic leukemia patientsNorthern California Childhood Leukemia StudyPopulation-based studyAcute lymphoblastic leukemiaCalifornia Childhood Leukemia StudyChildhood Leukemia StudyChildhood leukemia patientsEthnic-specific risk factorsTEL-AML1 translocationSitu hybridization findingsTumor genetic characteristicsLymphoblastic leukemiaRisk factorsEpidemiologic studiesHigh hyperdiploidyTEL-AML1Childhood leukemiaCytogenetic profilePatientsMLL rearrangementsLeukemia Study
2003
Prenatal origin of TEL‐AML1–positive acute lymphoblastic leukemia in children born in California
McHale CM, Wiemels JL, Zhang L, Ma X, Buffler PA, Guo W, Loh ML, Smith MT. Prenatal origin of TEL‐AML1–positive acute lymphoblastic leukemia in children born in California. Genes Chromosomes And Cancer 2003, 37: 36-43. PMID: 12661004, DOI: 10.1002/gcc.10199.Peer-Reviewed Original ResearchConceptsAcute lymphoblastic leukemiaCommon acute lymphoblastic leukemiaLymphoblastic leukemiaTEL-AML1CALL patientsPrenatal originTEL-AML1 gene fusionGuthrie cardsPositive acute lymphoblastic leukemiaSecondary changesTime of diagnosisTEL-AML1 fusionNeonatal Guthrie cardsNeonatal blood spotsClonotypic primersClonotypic sequencesOlder patientsPeak incidenceChildhood cancerRetrospective analysisTEL alleleTrisomy 21Blood spotsLeukemiaPatients
2002
In utero origin of t(8;21) AML1-ETO translocations in childhood acute myeloid leukemia
Wiemels JL, Xiao Z, Buffler PA, Maia AT, Ma X, Dicks BM, Smith MT, Zhang L, Feusner J, Wiencke J, Pritchard-Jones K, Kempski H, Greaves M. In utero origin of t(8;21) AML1-ETO translocations in childhood acute myeloid leukemia. Blood 2002, 99: 3801-3805. PMID: 11986239, DOI: 10.1182/blood.v99.10.3801.Peer-Reviewed Original ResearchMeSH KeywordsAcute DiseaseChildChild, PreschoolChromosomes, Human, Pair 21Chromosomes, Human, Pair 8Core Binding Factor Alpha 2 SubunitDNA, NeoplasmHumansInfant, NewbornLeukemia, MyeloidOncogene Proteins, FusionRemission InductionRUNX1 Translocation Partner 1 ProteinTranscription FactorsTranslocation, GeneticConceptsChildhood acute myeloid leukemiaAcute myeloid leukemiaPrenatal originAML1–ETO translocationsMyeloid leukemiaGenomic fusion sequencesYears of ageTEL-AML1 translocationUtero originRemission samplesSecondary genetic alterationsGuthrie blood spotsBlood spotsGuthrie spotsPatientsLeukemiaLeukemia samplesGenetic alterationsRecent reportsFusion geneChildrenResultant fusion geneTranslocationInfantsUtero