2023
Molecular Techniques and Gene Mutations in Myelodysplastic Syndromes
Mendoza H, Siddon A. Molecular Techniques and Gene Mutations in Myelodysplastic Syndromes. Clinics In Laboratory Medicine 2023, 43: 549-563. PMID: 37865502, DOI: 10.1016/j.cll.2023.06.002.Peer-Reviewed Original ResearchMolecular findings in myeloid neoplasms
Tran T, Siddon A. Molecular findings in myeloid neoplasms. International Journal Of Laboratory Hematology 2023, 45: 442-448. PMID: 37345257, DOI: 10.1111/ijlh.14118.Peer-Reviewed Original ResearchConceptsAcute myeloid leukemiaMyeloid neoplasmsNext-generation sequencingMyeloproliferative neoplasmsInternational diagnostic guidelinesSomatic gene mutationsHematologic cancersMyeloid leukemiaDiagnostic guidelinesClinical relevanceMyeloid disordersPatient careNeoplasmsCytogenetic findingsMolecular findingsGene mutationsNew molecular technologiesMolecular technologiesMutationsLeukemiaCancerPrognosticationCliniciansFindingsModifier mutationsMyeloid sarcoma with NPM1 mutation may be clinically and genetically distinct from AML with NPM1 mutation: a study from the Bone Marrow Pathology Group
de M, Wu L, Hirt C, Pihan G, Patel S, Tam W, Bueso-Ramos C, Kanagal-Shamanna R, Raess P, Siddon A, Narayanan D, Morgan E, Pinkus G, Mason E, Hsi E, Rogers H, Toth L, Foucar K, Hurwitz S, Bagg A, Rets A, George T, Orazi A, Arber D, Hasserjian R, Weinberg O, Group F. Myeloid sarcoma with NPM1 mutation may be clinically and genetically distinct from AML with NPM1 mutation: a study from the Bone Marrow Pathology Group. Leukemia & Lymphoma 2023, 64: 972-980. PMID: 36960680, DOI: 10.1080/10428194.2023.2185091.Peer-Reviewed Original ResearchConceptsAcute myeloid leukemiaMyeloid sarcomaOverall survivalNPM1 mutationsDe novo acute myeloid leukemiaBone Marrow Pathology GroupMulti-institutional cohort studyNovo acute myeloid leukemiaRetrospective multi-institutional cohort studyShorter overall survivalPoor overall survivalFrequent cytogenetic abnormalityCohort studyMyeloid leukemiaPathology groupCytogenetic abnormalitiesComplex karyotypeUnique genetic landscapeMutations of genesGene mutationsSarcomaGenetic landscapeHigher average numberMutationsLeukemia
2021
Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing
Easwar A, Siddon AJ. Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing. Life 2021, 11: 1158. PMID: 34833034, PMCID: PMC8625510, DOI: 10.3390/life11111158.Peer-Reviewed Original ResearchAdditional mutationsChromatin modificationsSignal transductionDNA methylationPhiladelphia chromosome-negative myeloproliferative neoplasmsJAK-STATConstitutive activationGenetic landscapeDriver eventsMyeloproliferative neoplasmsSomatic mutationsMolecular landscapeMutationsMolecular alterationsHematopoietic stem cell neoplasmsSplicingTransductionGenesMethylationLandscapeSequencing panelTranslocationStem cell neoplasmChronic myeloid leukemiaPathway