Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases

Véronique Gelsi-Boyer; Mandy Brecqueville; Raynier Devillier; Anne Murati; Marie-Joelle Mozziconacci; Daniel Birnbaum

doi:10.1186/1756-8722-5-12

Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases

J Hematol Oncol. 2012 Mar 21:5:12. doi: 10.1186/1756-8722-5-12.

Authors

Véronique Gelsi-Boyer¹, Mandy Brecqueville, Raynier Devillier, Anne Murati, Marie-Joelle Mozziconacci, Daniel Birnbaum

Affiliation

¹ Centre de Recherche en Cancérologie de Marseille, Laboratoire d'Oncologie Moléculaire, UMR1068 Inserm, Institut Paoli-Calmettes, Marseille, France. gelsiv@marseille.fnclcc.fr

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.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Bone Marrow Diseases / classification*
Bone Marrow Diseases / diagnosis*
Bone Marrow Diseases / genetics*
DNA Mutational Analysis
Humans
Leukemia, Myeloid, Acute / diagnosis
Leukemia, Myeloid, Acute / genetics
Leukemia, Myelomonocytic, Chronic / diagnosis
Leukemia, Myelomonocytic, Chronic / genetics
Models, Biological
Mutation* / physiology
Myelodysplastic Syndromes / diagnosis
Myelodysplastic Syndromes / genetics
Myeloproliferative Disorders / diagnosis
Myeloproliferative Disorders / genetics
Prognosis
Repressor Proteins / genetics*

Substances

ASXL1 protein, human
Repressor Proteins