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

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

Author information

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.

PMID:
22436456
PMCID:
PMC3355025
DOI:
10.1186/1756-8722-5-12
[Indexed for MEDLINE]
Free PMC Article

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