title: Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations.
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Jeromin
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany.
authors.forename: Torsten
authors.initials: T
authors.lastname: Haferlach
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany.
authors.forename: Sandra
authors.initials: S
authors.lastname: Weissmann
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany.
authors.forename: Manja
authors.initials: M
authors.lastname: Meggendorfer
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany.
authors.forename: Christiane
authors.initials: C
authors.lastname: Eder
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany.
authors.forename: Niroshan
authors.initials: N
authors.lastname: Nadarajah
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany.
authors.forename: Tamara
authors.initials: T
authors.lastname: Alpermann
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Kohlmann
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany.
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Kern
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany.
authors.forename: Claudia
authors.initials: C
authors.lastname: Haferlach
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany susanne.schnittger@mll.com.
authors.forename: Susanne
authors.initials: S
authors.lastname: Schnittger
mesh_terms: D000753:Anemia, Refractory / Q000175:diagnosis* / Q000235:genetics*; D004913:Erythrocytes, Abnormal / Q000473:pathology*; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D009154:Mutation; D010750:Phosphoproteins / Q000235:genetics*; D000072260:RNA Splicing Factors; D012097:Repressor Proteins / Q000235:genetics*; D017413:Ribonucleoprotein, U2 Small Nuclear / Q000235:genetics*; D017381:Spliceosomes / Q000235:genetics*; D013922:Thrombocytosis / Q000235:genetics*
chemical_list: C473949:ASXL1 protein, human; D010750:Phosphoproteins; D000072260:RNA Splicing Factors; D012097:Repressor Proteins; D017413:Ribonucleoprotein, U2 Small Nuclear; C112491:SF3B1 protein, human; D053614:Janus Kinase 2
keywords: MDS; MPN; mutation; myeloid; ring sideroblasts; spliceosome