2024
Triple-Negative Myelofibrosis: Disease Features, Response to Treatment and Outcomes
Aguirre L, Jain A, Ball S, Ali N, Volpe V, Tinsley-Vance S, Sallman D, Sweet K, Lancet J, Padron E, Yun S, Kuykendall A, Komrokji R. Triple-Negative Myelofibrosis: Disease Features, Response to Treatment and Outcomes. Clinical Lymphoma Myeloma & Leukemia 2024, 24: 459-467. PMID: 38548563, DOI: 10.1016/j.clml.2024.03.001.Peer-Reviewed Original ResearchConceptsRate of leukemic transformationResponse to ruxolitinibLeukemic transformationPercentage of marrow blastsAssessment of treatment responseH. Lee Moffitt Cancer CenterPhenotypic driver mutationsNegative myeloproliferative neoplasmsHigh-risk diseaseAggressive clinical behaviorDiagnosis of myelofibrosisProportion of patientsOverall survival timeMoffitt Cancer CenterShort durationMarrow blastsTrisomy 8Epigenetic modificationsTN patientsAggressive courseRisk diseaseClinical presentationMyeloproliferative neoplasmsInferior outcomesClinical behavior
2023
Mutations in the RNA Splicing Factors U2AF1 and SRSF2 are Context-Dependent in Myeloproliferative Neoplasms
Bale S, Kim C, How J, Wazir M, Weeks L, Stahl M, Luskin M, DeAngelo D, Lindsley C, Kim A, Mullally A, Marneth A. Mutations in the RNA Splicing Factors U2AF1 and SRSF2 are Context-Dependent in Myeloproliferative Neoplasms. Blood 2023, 142: 1788. DOI: 10.1182/blood-2023-178657.Peer-Reviewed Original ResearchVariant allele frequencySRSF2 mutationsCALR mutationsMyeloproliferative neoplasmsU2AF1 mutationsPathogenic mutationsSplicing factor mutationsCo-mutationsGene mutationsMPN phenotypic driver mutationsPolymerase chain reactionDriver mutationsMyeloproliferative neoplasm driver mutationsSplicing factor genes mutationsCD34-positive bone marrow cellsPositive bone marrow cellsPhenotypic driver mutationsSpliceosome gene mutationsNegative myeloproliferative neoplasmsComprehensive molecular profilingMyeloproliferative neoplasm patientsHematopoietic growth factorsBone marrow cellsSplicing factor U2AF1Pathogenic mutation(sUnlike TET2 and ASXL1, Co-Occurring DNMT3A Mutations Are Not Associated with Increased Age in JAK2-Mutant Myeloproliferative Neoplasms (MPNs)
How J, Marneth A, Kamaz B, Kim C, Neuberg D, Ren S, Wazir M, Weeks L, Stahl M, DeAngelo D, Lindsley R, Luskin M, Hormoz S, Mullally A. Unlike TET2 and ASXL1, Co-Occurring DNMT3A Mutations Are Not Associated with Increased Age in JAK2-Mutant Myeloproliferative Neoplasms (MPNs). Blood 2023, 142: 4521. DOI: 10.1182/blood-2023-179407.Peer-Reviewed Original ResearchJAK2-mutated myeloproliferative neoplasmsJAK2-mutated patientsFraction of patientsVariant allele fractionASXL1 mutationsDNMT3A mutationsMyeloproliferative neoplasmsConcomitant mutationsMyeloproliferative neoplasms diagnosisAssociated with increasing ageEssential thrombocythemiaPolycythemia veraDriver mutationsMyeloproliferative neoplasm driver mutationsNext generation sequencingCo-mutated patientsHomozygous JAK2 mutationPhenotypic driver mutationsClinical next generation sequencingJAK2-mutantMPL mutationsMF patientsClonal hematopoiesisPV patientsJAK2 mutation
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