2024
Data-driven, harmonised classification system for myelodysplastic syndromes: a consensus paper from the International Consortium for Myelodysplastic Syndromes
Komrokji R, Lanino L, Ball S, Bewersdorf J, Marchetti M, Maggioni G, Travaglino E, Al Ali N, Fenaux P, Platzbecker U, Santini V, Diez-Campelo M, Singh A, Jain A, Aguirre L, Tinsley-Vance S, Schwabkey Z, Chan O, Xie Z, Brunner A, Kuykendall A, Bennett J, Buckstein R, Bejar R, Carraway H, DeZern A, Griffiths E, Halene S, Hasserjian R, Lancet J, List A, Loghavi S, Odenike O, Padron E, Patnaik M, Roboz G, Stahl M, Sekeres M, Steensma D, Savona M, Taylor J, Xu M, Sweet K, Sallman D, Nimer S, Hourigan C, Wei A, Sauta E, D’Amico S, Asti G, Castellani G, Delleani M, Campagna A, Borate U, Sanz G, Efficace F, Gore S, Kim T, Daver N, Garcia-Manero G, Rozman M, Orfao A, Wang A, Foucar M, Germing U, Haferlach T, Scheinberg P, Miyazaki Y, Iastrebner M, Kulasekararaj A, Cluzeau T, Kordasti S, van de Loosdrecht A, Ades L, Zeidan A, Della Porta M, Syndromes I. Data-driven, harmonised classification system for myelodysplastic syndromes: a consensus paper from the International Consortium for Myelodysplastic Syndromes. The Lancet Haematology 2024, 11: e862-e872. PMID: 39393368, DOI: 10.1016/s2352-3026(24)00251-5.Peer-Reviewed Original ResearchGenomic featuresData-driven approachTP53 inactivationGenomic heterogeneityEntity labelsGenetic featuresDel(7q)/-7Myelodysplastic syndromeGenomic profilingData scientistsMutated SF3B1Cluster assignmentComplex karyotypeRUNX1 mutationsModified Delphi consensus processDel(5qIsolated del(5qAcute myeloid leukemiaData-drivenDelphi consensus processMarrow blastsLiquid biopsy‐based circulating tumour (ct)DNA analysis of a spectrum of myeloid and lymphoid malignancies yields clinically actionable results
Mata D, Lee J, Shanmugam V, Marcus C, Schrock A, Williams E, Ritterhouse L, Hickman R, Janovitz T, Patel N, Kroger B, Ross J, Mirza K, Oxnard G, Vergilio J, Elvin J, Benhamida J, Decker B, Xu M. Liquid biopsy‐based circulating tumour (ct)DNA analysis of a spectrum of myeloid and lymphoid malignancies yields clinically actionable results. Histopathology 2024, 84: 1224-1237. PMID: 38422618, DOI: 10.1111/his.15168.Peer-Reviewed Original ResearchConceptsNon-Hodgkin's lymphomaPlasma-cell neoplasmsAcute myeloid leukemiaCirculating tumor DNAHodgkin lymphomaMyelodysplastic syndromeHaematopoietic neoplasmsNext-generation sequencingTissue-based NGSMaximum somatic allele frequencyFoundationOne Liquid CDxTherapy-resistant clonesRelevant genomic alterationsPositive percent agreementPotential clinical utilityLymphoid malignanciesTumor DNAMyeloid leukemiaPlasma-cellsTissue biopsiesGenomic alterationsPathogenic alterationsLiquid biopsyMolecular profilingTP53
2023
IRF8 may be a useful marker for blastic plasmacytoid dendritic cell neoplasm, especially with weak CD123 expression
Tang H, Panse G, Braddock D, Perincheri S, Xu M, McNiff J. IRF8 may be a useful marker for blastic plasmacytoid dendritic cell neoplasm, especially with weak CD123 expression. Journal Of Cutaneous Pathology 2023, 50: 595-600. PMID: 37082914, DOI: 10.1111/cup.14439.Peer-Reviewed Original ResearchConceptsBlastic plasmacytoid dendritic cell neoplasmPlasmacytoid dendritic cell neoplasmDendritic cell neoplasmPunch biopsy specimenBiopsy specimenCell neoplasmsCase of BPDCNUseful markerTumor cellsTCL-1 expressionAtypical mononuclear cellsBone marrow involvementDiffuse dermal infiltrateDendritic cell lineagePotential diagnostic pitfallRegulatory factor 8TCL-1BPDCN casesCD123 expressionMarrow involvementDermal infiltrateCutaneous nodulesMyelodysplastic syndromeSkin nodulesMononuclear cells
2022
Liquid biopsy (LB)-based comprehensive genomic profiling (CGP) of circulating tumor DNA (ctDNA) for the evaluation of patients with myeloid neoplasms.
Mata D, Xu M, Shanmugam V, Tukachinsky H, Schrock A, Ross J, Williams E, Montesion M, Decker B, Vergilio J, Oxnard G, Benhamida J. Liquid biopsy (LB)-based comprehensive genomic profiling (CGP) of circulating tumor DNA (ctDNA) for the evaluation of patients with myeloid neoplasms. Journal Of Clinical Oncology 2022, 40: e19064-e19064. DOI: 10.1200/jco.2022.40.16_suppl.e19064.Peer-Reviewed Original ResearchComprehensive genomic profilingAcute myeloid leukemiaMyelodysplastic syndromeHistiocytic neoplasmsMyeloproliferative neoplasmsMyeloid neoplasiaAML casesMinimal residual disease testingPathogenic alterationsHybrid-capture next-generation sequencingSolid tumor diagnosisEvaluation of patientsRoutine clinical careRelevant genomic alterationsMonitoring of patientsUnique patient samplesRetrospective studyMyeloid leukemiaMyeloid neoplasmsClinical carePatientsKRAS G12AInsufficient tumorDisease testingPathway alterationsDNMT3A 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 karyotypeA highly efficient and faithful MDS patient-derived xenotransplantation model for pre-clinical studies
Song Y, Rongvaux A, Taylor A, Jiang T, Tebaldi T, Balasubramanian K, Bagale A, Terzi YK, Gbyli R, Wang X, Fu X, Gao Y, Zhao J, Podoltsev N, Xu M, Neparidze N, Wong E, Torres R, Bruscia EM, Kluger Y, Manz MG, Flavell RA, Halene S. A highly efficient and faithful MDS patient-derived xenotransplantation model for pre-clinical studies. Nature Communications 2019, 10: 366. PMID: 30664659, PMCID: PMC6341122, DOI: 10.1038/s41467-018-08166-x.Peer-Reviewed Original ResearchConceptsPatient-derived xenograftsMyelodysplastic syndromeXenotransplantation modelDysplastic morphologyImmunodeficient murine hostsPre-clinical studiesMDS stem cellsMDS subtypesComprehensive preclinical studiesPreclinical studiesTherapeutic efficacyMurine hostSerial transplantationDrug mechanismsMDS researchStem cell propagationStem cellsDifferentiation potentialHematopoietic stem cell nicheGenetic complexityNovel avenuesStem cell nicheCell propagationDisease representationsImmunodeficient
2018
Be careful of the masquerades: differentiating secondary myelodysplasia from myelodysplastic syndromes in clinical practice
Shallis RM, Xu ML, Podoltsev NA, Curtis SA, Considine BT, Khanna SR, Siddon AJ, Zeidan AM. Be careful of the masquerades: differentiating secondary myelodysplasia from myelodysplastic syndromes in clinical practice. Annals Of Hematology 2018, 97: 2333-2343. PMID: 30109425, DOI: 10.1007/s00277-018-3474-7.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsMyelodysplastic syndromeSecondary myelodysplasiaSecondary causesAllogeneic hematopoietic cell transplantationDiagnosis of MDSRepresentative case seriesUnderlying myelodysplastic syndromeHematopoietic cell transplantationLack of efficacyHematologists/oncologistsMeticulous exclusionResultant cytopeniasIntensive chemotherapyCase seriesMorphologic reviewCell transplantationDiagnostic dilemmaSuch therapyMalignant processExpert hematopathologistsClinical practiceMyelodysplasiaCytogenetic abnormalitiesPatientsSpecialized physicians