title: Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.
abstract: The ASXL1 gene is one of the most frequently mutated genes in malignant myeloid diseases. The ASXL1 protein belongs to protein complexes involved in the epigenetic regulation of gene expression. ASXL1 mutations are found in myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia (CMML) and acute myeloid leukemia (AML). They are generally associated with signs of aggressiveness and poor clinical outcome. Because of this, a systematic determination of ASXL1 mutational status in myeloid malignancies should help in prognosis assessment.
authors.affiliation: Centre de Recherche en Cancérologie de Marseille, Laboratoire d'Oncologie Moléculaire, UMR1068 Inserm, Institut Paoli-Calmettes, Marseille, France. gelsiv@marseille.fnclcc.fr
authors.forename: Véronique
authors.initials: V
authors.lastname: Gelsi-Boyer
authors.forename: Mandy
authors.initials: M
authors.lastname: Brecqueville
authors.forename: Raynier
authors.initials: R
authors.lastname: Devillier
authors.forename: Anne
authors.initials: A
authors.lastname: Murati
authors.forename: Marie-Joelle
authors.initials: MJ
authors.lastname: Mozziconacci
authors.forename: Daniel
authors.initials: D
authors.lastname: Birnbaum
mesh_terms: D001855:Bone Marrow Diseases / Q000145:classification* / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics; D015477:Leukemia, Myelomonocytic, Chronic / Q000175:diagnosis / Q000235:genetics; D008954:Models, Biological; D009154:Mutation / Q000502:physiology; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000235:genetics; D011379:Prognosis; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: C473949:ASXL1 protein, human; D012097:Repressor Proteins