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

Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.
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DOI:
10.1186/1756-8722-5-12
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发表时间:
2012-03-21
影响因子:
28.5
通讯作者:
Birnbaum D
Birnbaum D
中科院分区:
医学1区
文献类型:
--
作者:
Gelsi-Boyer V;Brecqueville M;Devillier R;Murati A;Mozziconacci MJ;Birnbaum D

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ASXL1基因是恶性髓系疾病中最常见的突变基因之一。ASXL1蛋白属于参与基因表达的表观遗传调控的蛋白复合物。ASXL 1突变发现于骨髓增生性肿瘤(MPN)、骨髓增生异常综合征(MDS)、慢性粒单核细胞白血病(CMML)和急性骨髓性白血病(AML)中。它们通常与侵略性和不良临床结果的迹象有关。正因为如此,系统地确定骨髓恶性肿瘤中ASXL1突变状态有助于预后评估。
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.
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