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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.

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