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 ResearchConceptsAcute 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 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“Double‐hit” ineffective erythropoiesis—concurrent β‐thalassemia with α‐gene triplication and myelodysplastic syndrome with SF3B1 mutation
Chen P, Gorshein E, Tormey C, Siddon A, Perincheri S. “Double‐hit” ineffective erythropoiesis—concurrent β‐thalassemia with α‐gene triplication and myelodysplastic syndrome with SF3B1 mutation. American Journal Of Hematology 2023, 98: 984-988. PMID: 36688500, DOI: 10.1002/ajh.26856.Peer-Reviewed Educational Materials
2022
NPM1 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 ResearchTP53 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 ResearchConceptsAcute 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
Laboratory 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 NotesA 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 ResearchConceptsAcute 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 transplant
2017
R634W KIT Mutation in an Adult With Systemic Mastocytosis
Astle JM, Rose MG, Racke FK, Tormey CA, Siddon AJ. R634W KIT Mutation in an Adult With Systemic Mastocytosis. Lab Medicine 2017, 48: 253-257. PMID: 28520972, DOI: 10.1093/labmed/lmx026.Peer-Reviewed Original Research
2013
Pathology Consultation on Evaluating Prognosis in Incidental Monoclonal Lymphocytosis and Chronic Lymphocytic Leukemia
Siddon AJ, Rinder HM. Pathology Consultation on Evaluating Prognosis in Incidental Monoclonal Lymphocytosis and Chronic Lymphocytic Leukemia. American Journal Of Clinical Pathology 2013, 139: 708-712. PMID: 23690112, DOI: 10.1309/ajcplir4gzwx3xka.Peer-Reviewed Original ResearchMeSH KeywordsADP-ribosyl Cyclase 1Beta 2-MicroglobulinFlow CytometryGene Rearrangement, B-LymphocyteHumansImmunoglobulin Heavy ChainsImmunoglobulin Variable RegionIncidental FindingsLeukemia, Lymphocytic, Chronic, B-CellLymphocytosisMaleMiddle AgedMutationPrognosisWatchful WaitingZAP-70 Protein-Tyrosine KinaseConceptsChronic lymphocytic leukemiaEarly-stage chronic lymphocytic leukemiaStage chronic lymphocytic leukemiaDisease progressionLymphocytic leukemiaImmunoglobulin heavy chain variable (IGHV) gene mutational statusMonoclonal B-cell lymphoproliferative disorderLaboratory evaluationOvert chronic lymphocytic leukemiaMonoclonal B-cell lymphocytosisB-cell lymphoproliferative disordersAggressive disease progressionSignificant disease progressionIndolent clinical courseSerum β2-microglobulinRoutine laboratory evaluationB-cell lymphocytosisZAP-70 expressionGene mutational statusMonoclonal lymphocytosisClinical courseExpectant observationLymphoproliferative disordersTherapeutic optionsPrognostic marker