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骨髓增殖性疾病中NPM1的突变与启动子甲基化状态

Mutations and promoter methylation status of NPM1 in myeloproliferative disorders.

作者信息

Oki Yasuhiro, Jelinek Jaroslav, Beran Miloslav, Verstovsek Srdan, Kantarjian Hagop M, Issa Jean-Pierre J

出版信息

Haematologica. 2006 Aug;91(8):1147-8. Epub 2006 Jul 25.

PMID:16870548
Abstract

We determined mutations and promoter methylation status of NPM1 using pyrosequencing in 199 samples of myeloid neoplasia including myeloproliferative disorders (MPD). The mutations were present in 4% of chronic myelomonocytic leukemia, but not in other MPD or myelodysplastic syndromes. Promoter methylation was rare, and was found in only three samples of MPD.

摘要

我们采用焦磷酸测序法测定了199例髓系肿瘤（包括骨髓增殖性疾病，MPD）样本中NPM1的突变情况和启动子甲基化状态。慢性粒单核细胞白血病患者中有4%存在该突变，但在其他MPD或骨髓增生异常综合征患者中未发现。启动子甲基化情况罕见，仅在3例MPD样本中发现。

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