biostudies-literatureCarreno-Tarragona GCancer Research UKEuropean Hematology AssociationNational Institute for Health Research (NIHR)Wellcome TrustAcademy of Medical Sciences1672-1681https://www.ebi.ac.uk/biostudies/studies/S-EPMC10182308biostudies-literatureUnknown7(9)Chronic neutrophilic leukemia (CNL) and atypical chronic myeloid leukemia (aCML) are rare myeloid disorders that are challenging with regard to diagnosis and clinical management. To study the similarities and differences between these disorders, we undertook a multicenter international study of one of the largest case series (CNL, n = 24; aCML, n = 37 cases, respectively), focusing on the clinical and mutational profiles (n = 53 with molecular data) of these diseases. We found no differences in clinical presentations or outcomes of both entities. As previously described, both CNL and aCML share a complex mutational profile with mutations in genes involved in epigenetic regulation, splicing, and signaling pathways. Apart from CSF3R, only EZH2 and TET2 were differentially mutated between theBlood advancesCNL and aCML should be considered as a single entity based on molecular profiles and outcomes.PMC1018230829034EDDCPJT\100003AMS-SGCL10-PsailaCL-2012-21-004TRTH1002772328051107477/Z/15/Z26988Radia DHMorales MLFerrer-Marin FSweeney CPAyala RGoddard KAmat-Martinez POsorio SMcilwaine LWang LMartinez-Avila JCCutting RKoutsavlis IMead AJHarrison CAlvarez-Larran AFrancis SToth PStuckey RMayani KCarreno-Tarragona GSingh VGutierrez XMartinez-Lopez JCross NCPMora ERufian LNarayanan SMcGregor APerez-Encinas MPsaila BSmith JHernandez-Boluda JCGil-Manso RGonzalez-Martinez TSegura ARaya JMAlvares CMoreno LRozman MAlobaidi MDavidson KCuenca IfalseCNL and aCML should be considered as a single entity based on molecular profiles and outcomes.Chronic neutrophilic leukemia (CNL) and atypical chronic myeloid leukemia (aCML) are rare myeloid disorders that are challenging with regard to diagnosis and clinical management. To study the similarities and differences between these disorders, we undertook a multicenter international study of one of the largest case series (CNL, n = 24; aCML, n = 37 cases, respectively), focusing on the clinical and mutational profiles (n = 53 with molecular data) of these diseases. We found no differences in clinical presentations or outcomes of both entities. As previously described, both CNL and aCML share a complex mutational profile with mutations in genes involved in epigenetic regulation, splicing, and signaling pathways. Apart from CSF3R, only EZH2 and TET2 were differentially mutated between the2023-01-01T00:00:00Z2023 May2026-05-28T23:01:30.741Z2024-10-16T17:11:50.277ZS-EPMC101823083637504210.1182/bloodadvances.2022008204