2023
Diagnosis and Classification of Myelodysplastic Syndromes with Mutated TP53
Siddon A, Weinberg O. Diagnosis and Classification of Myelodysplastic Syndromes with Mutated TP53. Clinics In Laboratory Medicine 2023, 43: 607-614. PMID: 37865506, DOI: 10.1016/j.cll.2023.07.004.Peer-Reviewed Original ResearchMeSH KeywordsChromosome AberrationsHumansLeukemia, Myeloid, AcuteMutationMyelodysplastic SyndromesPrognosisTumor Suppressor Protein p53ConceptsAcute myeloid leukemiaMyelodysplastic syndromeTP53 mutationsPrognosis of MDSCases of MDSPrognostic scoring systemNext-generation sequencingParticular next-generation sequencingAggressive diseasePoor outcomeTherapeutic managementTP53 disruptionMyeloid leukemiaMyeloid neoplasmsTherapeutic advancementsCytogenetic abnormalitiesMyeloid neoplasiaScoring systemDisease classificationMyeloid diseasesGene mutationsSyndromeDiseaseDiagnosisTP53Molecular 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 ResearchMeSH KeywordsHematologic NeoplasmsHumansLeukemia, Myeloid, AcuteMutationMyelodysplastic SyndromesMyeloproliferative DisordersConceptsAcute 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 ResearchMeSH KeywordsBone MarrowCohort StudiesHumansLeukemia, Myeloid, AcuteMutationNuclear ProteinsNucleophosminPrognosisRetrospective StudiesSarcoma, MyeloidConceptsAcute 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
2022
Recognizing the microgranular variant of acute promyelocytic leukemia when considering leukapheresis
Gisriel S, Chen P, Tormey C, Siddon A. Recognizing the microgranular variant of acute promyelocytic leukemia when considering leukapheresis. Transfusion 2022, 63: 277-278. PMID: 36426743, DOI: 10.1111/trf.17195.Peer-Reviewed Original ResearchNPM1 mutations may be associated with adverse outcome in the setting of myeloid neoplasms with complex karyotype
Ramia de Cap M, Wu L, Pihan G, Narayanan D, Morgan E, Pinkus G, Cin P, Hurwitz S, Bagg A, Patel S, Tam W, Ouseph M, Gagan J, Madanat Y, Siddon A, Raess P, Rogers H, Bueso-Ramos C, Kanagal-Shamanna R, Kurzer J, Arber D, Hasserjian R, Weinberg O. NPM1 mutations may be associated with adverse outcome in the setting of myeloid neoplasms with complex karyotype. Leukemia Research 2022, 123: 106965. PMID: 36332291, DOI: 10.1016/j.leukres.2022.106965.Peer-Reviewed Original ResearchMeSH KeywordsAbnormal KaryotypeFms-Like Tyrosine Kinase 3HumansLeukemia, Myeloid, AcuteMutationNuclear ProteinsPrognosisTP53 mutation defines a unique subgroup within complex karyotype de novo and therapy-related MDS/AML
Weinberg OK, Siddon A, Madanat Y, Gagan J, Arber DA, Dal Cin P, Narayanan D, Ouseph MM, Kurzer JH, Hasserjian RP. TP53 mutation defines a unique subgroup within complex karyotype de novo and therapy-related MDS/AML. Blood Advances 2022, 6: 2847-2853. PMID: 35073573, PMCID: PMC9092405, DOI: 10.1182/bloodadvances.2021006239.Peer-Reviewed Original ResearchMeSH KeywordsHumansKaryotypeLeukemia, Myeloid, AcuteMutationMyelodysplastic SyndromesNeoplasms, Second PrimaryPrognosisTumor Suppressor Protein p53ConceptsAcute myeloid leukemiaMyelodysplastic syndromeOverall survivalTP53 mutationsComplex karyotypeBlast countWorse outcomesTherapy-related MDS/acute myeloid leukemiaDiagnosis of AMLMDS/acute myeloid leukemiaTherapy-related myeloid neoplasmsTherapy-related casesTP53-mutated patientsDe novo diseaseMarrow blast countLower hemoglobin levelsWorse overall survivalCK patientsNovo diseaseDifferent disease categoriesClinicopathologic featuresHemoglobin levelsMDS patientsMultivariable analysisAggressive disease
2021
Concurrent COVID-19 and babesiosis in an older, splenectomized patient
Jacobs JW, Siddon AJ. Concurrent COVID-19 and babesiosis in an older, splenectomized patient. Blood 2021, 138: 2154. PMID: 34821934, PMCID: PMC8614064, DOI: 10.1182/blood.2021013947.Peer-Reviewed Original ResearchLaboratory evaluation and prognostication among adults and children with CEBPA‐mutant acute myeloid leukemia
Mendoza H, Podoltsev NA, Siddon AJ. Laboratory evaluation and prognostication among adults and children with CEBPA‐mutant acute myeloid leukemia. International Journal Of Laboratory Hematology 2021, 43: 86-95. PMID: 34288448, DOI: 10.1111/ijlh.13517.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsCEBPA mutant acute myeloid leukemiaAcute myeloid leukemiaCEBPA mutationsMyeloid leukemiaLeukemogenic mutationsPositive prognostic impactSingle CEBPA mutationsSimilar survival outcomesNegative prognostic effectFLT3-ITD mutationLaboratory evaluationWild-type CEBPAMultiparameter flow cytometryGermline CEBPA mutationsFavorable prognosisPrognostic impactMutation presencePrognostic effectRisk stratificationSurvival outcomesGATA2 mutationsDistinct subtypesMolecular findingsCEBPA geneFlow cytometry
2020
A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetrance
Mendoza H, Chen PH, Pine AB, Siddon AJ, Bale AE, Gowda L, Killie A, Richards J, Varin-Tremblay C, Kloss R, Podoltsev NA. A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetrance. Leukemia & Lymphoma 2020, 62: 1251-1254. PMID: 33345654, DOI: 10.1080/10428194.2020.1861276.Peer-Reviewed Case Reports and Technical NotesCCAAT-Enhancer-Binding ProteinsGerm CellsGerm-Line MutationHumansLeukemia, Myeloid, AcuteMutationPenetrancePrognosisA complex karyotype and a genetic mutation in acute myeloid leukaemia
Bewersdorf JP, Siddon A, DiAdamo A, Zeidan AM. A complex karyotype and a genetic mutation in acute myeloid leukaemia. The Lancet 2020, 396: 2018. PMID: 33341145, DOI: 10.1016/s0140-6736(20)32543-5.Peer-Reviewed Original ResearchImpact of intra-tumoral heterogeneity detected by next-generation sequencing on acute myeloid leukemia survival
Schulz WL, Rinder HM, Durant TJS, Tormey CA, Torres R, Smith BR, Hager KM, Howe JG, Siddon AJ. Impact of intra-tumoral heterogeneity detected by next-generation sequencing on acute myeloid leukemia survival. Leukemia & Lymphoma 2020, 61: 3269-3271. PMID: 32715805, DOI: 10.1080/10428194.2020.1797016.Peer-Reviewed Original ResearchClinical outcomes and characteristics of patients with TP53-mutated acute myeloid leukemia or myelodysplastic syndromes: a single center experience*
Bewersdorf JP, Shallis RM, Gowda L, Wei W, Hager K, Isufi I, Kim TK, Pillai MM, Seropian S, Podoltsev NA, Gore SD, Siddon AJ, Zeidan AM. Clinical outcomes and characteristics of patients with TP53-mutated acute myeloid leukemia or myelodysplastic syndromes: a single center experience*. Leukemia & Lymphoma 2020, 61: 2180-2190. PMID: 32362171, PMCID: PMC7603787, DOI: 10.1080/10428194.2020.1759051.Peer-Reviewed Original ResearchMeSH KeywordsHumansLeukemia, Myeloid, AcuteMutationMyelodysplastic SyndromesRetrospective StudiesTumor Suppressor Protein p53ConceptsAcute myeloid leukemiaMedian overall survivalTherapy-related malignanciesOverall survivalMyelodysplastic syndromeMyeloid leukemiaAllogeneic hematopoietic stem cell transplantLonger median overall survivalSingle-center retrospective studyComplex karyotypeHematopoietic stem cell transplantIntensive chemotherapy approachesYale Cancer CenterCharacteristics of patientsSingle-center experienceMinority of patientsStem cell transplantLong-term survivalLow response rateIntensive chemotherapyCenter experienceClinicopathologic characteristicsAdverse prognosisAML patientsCell transplantIsolated trisomy 11 in patients with acute myeloid leukemia – is the prognosis not as grim as previously thought?*
Bewersdorf JP, Shallis RM, Diadamo A, Gowda L, Podoltsev NA, Siddon A, Zeidan AM. Isolated trisomy 11 in patients with acute myeloid leukemia – is the prognosis not as grim as previously thought?*. Leukemia & Lymphoma 2020, 61: 2254-2257. PMID: 32338096, PMCID: PMC7485109, DOI: 10.1080/10428194.2020.1755858.Peer-Reviewed Original Research
2019
Acute myeloid leukemia presenting as bilateral adrenal hemorrhage
Mendoza H, Podoltsev NA, Siddon AJ, Gnanapandithan K. Acute myeloid leukemia presenting as bilateral adrenal hemorrhage. Annals Of Hematology 2019, 98: 2421-2423. PMID: 31446457, DOI: 10.1007/s00277-019-03788-7.Peer-Reviewed Original Research
2015
Pathology Consultation on Gene Mutations in Acute Myeloid Leukemia
Ziai JM, Siddon AJ. Pathology Consultation on Gene Mutations in Acute Myeloid Leukemia. American Journal Of Clinical Pathology 2015, 144: 539-554. PMID: 26386075, DOI: 10.1309/ajcp77zfpuqgygwy.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkers, TumorDNA Mutational AnalysisGene Expression ProfilingHumansLeukemia, Myeloid, AcuteNucleophosminPathology, ClinicalReferral and ConsultationConceptsAcute myeloid leukemiaMyeloid leukemiaGene mutationsTypes of AMLNormal acute myeloid leukemiaAggressive chemotherapy regimensMinimal residual diseaseChemotherapy regimensDisease courseImmunophenotypic featuresResidual diseaseTherapeutic regimensPatient prognosisPrognostic informationTherapeutic implicationsAML classificationIndividualized approachPathology consultationFatal diseasePrognosisHeterogeneous groupRelevant gene mutationsDiseaseLaboratory evaluationRegimens
2014
Catastrophic basilar artery leukostasis in the setting of acute myeloid leukemia
Raad R, Tormey CA, Siddon AJ. Catastrophic basilar artery leukostasis in the setting of acute myeloid leukemia. Transfusion 2014, 54: 970-970. PMID: 24724788, DOI: 10.1111/trf.12384.Peer-Reviewed Original Research