2024
Future directions in myelodysplastic syndromes/neoplasms and acute myeloid leukaemia classification: from blast counts to biology
Della Porta M, Bewersdorf J, Wang Y, Hasserjian R. Future directions in myelodysplastic syndromes/neoplasms and acute myeloid leukaemia classification: from blast counts to biology. Histopathology 2024 PMID: 39450427, DOI: 10.1111/his.15353.Peer-Reviewed Original ResearchAcute myeloid leukemiaIntegration of genomic dataGenomic informationGenomic dataPresence of SF3B1 mutationsDisease entityMethylation profilesAML classificationRecurrent genetic abnormalitiesHaematopoietic cell proliferationPercentage of myeloblastsGene expressionGenetic featuresMultiple diagnostic modalitiesPatient risk stratificationSF3B1 mutationsBlast countDisease pathogenesisGenetic abnormalitiesCell proliferationTP53 abnormalitiesDiagnostic modalitiesMyeloid leukemiaBone marrowPatient cohort
2023
Data-Driven Harmonization of 2022 Who and ICC Classifications of Myelodysplastic Syndromes/Neoplasms (MDS): A Study By the International Consortium for MDS (icMDS)
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, Borate U, Sanz G, Efficace F, Gore S, Kim T, Daver N, Garcia-Manero G, Rozman M, Orfao A, Wang S, 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, Komrokji R, Della Porta M. Data-Driven Harmonization of 2022 Who and ICC Classifications of Myelodysplastic Syndromes/Neoplasms (MDS): A Study By the International Consortium for MDS (icMDS). Blood 2023, 142: 998. DOI: 10.1182/blood-2023-186580.Peer-Reviewed Original ResearchBlast countMost patientsTP53 mutationsTET2 mutationsChromosomal abnormalitiesMore TP53 mutationsBone marrow blastsGene mutationsSF3B1 mutationsClinical decision-making processHigh-risk mutationsMarrow blastsMultilineage dysplasiaPatient characteristicsAML patientsClinical entityInternational cohortSHAP analysisMDS casesPatientsClinical relevanceCytogenetic abnormalitiesClinical settingComplex karyotypeU2AF1 mutations