2022
DNMT3A R882 Mutations Confer Unique Clinicopathologic Features in MDS Including a High Risk of AML Transformation
Jawad M, Afkhami M, Ding Y, Zhang X, Li P, Young K, Xu ML, Cui W, Zhao Y, Halene S, Al-Kali A, Viswanatha D, Chen D, He R, Zheng G. DNMT3A R882 Mutations Confer Unique Clinicopathologic Features in MDS Including a High Risk of AML Transformation. Frontiers In Oncology 2022, 12: 849376. PMID: 35296003, PMCID: PMC8918526, DOI: 10.3389/fonc.2022.849376.Peer-Reviewed Original ResearchWorse progression-free survivalProgression-free survivalMyelodysplastic syndromeAML transformationMyeloid neoplasmsMDS casesHigh riskR882 mutationsClonal hematopoiesisIndependent risk factorUnique clinicopathologic featuresTertiary medical institutionsDifferent treatment approachesUnique clinicopathologicExcess blastsSevere leukopeniaClinicopathologic featuresMutant patientsRisk factorsLarge cohortTherapeutic implicationsTreatment approachesClinical implicationsClinical-genomic databaseNeoplasms
2019
Clinicopathologic and genetic characterization of nonacute NPM1-mutated myeloid neoplasms
Patel SS, Ho C, Ptashkin RN, Sadigh S, Bagg A, Geyer JT, Xu ML, Prebet T, Mason EF, Seegmiller AC, Morgan EA, Steensma DP, Winer ES, Wong WJ, Hasserjian RP, Weinberg OK. Clinicopathologic and genetic characterization of nonacute NPM1-mutated myeloid neoplasms. Blood Advances 2019, 3: 1540-1545. PMID: 31085507, PMCID: PMC6517660, DOI: 10.1182/bloodadvances.2019000090.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overDNA (Cytosine-5-)-MethyltransferasesDNA Methyltransferase 3AFemaleHumansMaleMiddle AgedMutationMyelodysplastic SyndromesNuclear ProteinsNucleophosminPrognosisProportional Hazards ModelsProtein Tyrosine Phosphatase, Non-Receptor Type 11Survival RateTumor Suppressor Protein p53ConceptsMyelodysplastic syndromeMyeloid neoplasmsDe novo acute myeloid leukemia (AML) patientsNovo acute myeloid leukemia patientsAcute myeloid leukemia patientsBone marrow blastsAggressive clinical courseStem cell transplantLimited case seriesShorter overall survivalMyeloid leukemia patientsIntensive therapeutic regimensTotal mutation countsMarrow blastsOverall survivalClinical courseCase seriesCell transplantMultivariable analysisTherapeutic regimensLeukemia patientsLarge cohortYounger agePatientsNormal karyotype