Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations

Haematologica

Volumn 100, Issue 4, 2015, Pages e125-e127

  Jeromin, Sabine ^a   Haferlach, Torsten ^a   Weissmann, Sandra ^a   Meggendorfer, Manja ^a   Eder, Christiane ^a   Nadarajah, Niroshan ^a   Alpermann, Tamara ^a   Kohlmann, Alexander ^a   Kern, Wolfgang ^a   Haferlach, Claudia ^a   Schnittger, Susanne ^a  

^a MLL MUNICH LEUKEMIA LABORATORY   (Germany)

Author keywords

MDS; MPN; Mutation; Myeloid; Ring sideroblasts; Spliceosome

Indexed keywords

DNA METHYLTRANSFERASE 3A; HEMOGLOBIN; JANUS KINASE 2; SERINE ARGININE RICH PROTEIN; TRANSCRIPTION FACTOR EZH2; ASXL1 PROTEIN, HUMAN; PHOSPHOPROTEIN; REPRESSOR PROTEIN; SF3B1 PROTEIN, HUMAN; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ADULT; AGED; ALLELE; ASXL GENE; CHROMOSOME ABERRATION; DISEASE ASSOCIATION; DNA SEQUENCE; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HUMAN; LETTER; LEUKOCYTE COUNT; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY (TOPIC); MUTATIONAL ANALYSIS; MYELOFIBROSIS; MYELOPROLIFERATIVE NEOPLASM; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; SF3B1 GENE; SPLICEOSOME GENE; THROMBOCYTE COUNT; THROMBOCYTHEMIA; THROMBOCYTOSIS; ANEMIA, REFRACTORY; ERYTHROCYTE DISORDER; GENETICS; MUTATION; PATHOLOGY; SPLICEOSOME;

ANEMIA, REFRACTORY; ERYTHROCYTES, ABNORMAL; HUMANS; JANUS KINASE 2; MUTATION; PHOSPHOPROTEINS; REPRESSOR PROTEINS; RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR; SPLICEOSOMES; THROMBOCYTOSIS;

EID: 84926359679     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2014.119032     Document Type: Letter

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