| 初文慧,于文征.MYD88 L265P基因突变在华氏巨球蛋白血症中的意义研究进展[J].安徽医药,2018,22(5):803-806. |
| MYD88 L265P基因突变在华氏巨球蛋白血症中的意义研究进展 |
| Research progress of MYD88 L265P mutation in Waldenstrom macroglobulinemia |
| 投稿时间：2017-08-03 |
| DOI： |
| 中文关键词: 华氏巨球蛋白血症 淋巴浆细胞淋巴瘤 MYD88 L265P 依鲁替尼 |
| 英文关键词: Waldenstrom macroglobulinemia lymphoplasmacytic lymphoma MYD88 L265P Ibrutinib |
| 基金项目: |
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| 中文摘要: |
| MYD88 L265P基因突变是指染色体3p22.2上的单个核苷酸的改变,该突变可以导致NF-κB信号传导通路的异常活化,从而促进细胞恶性增殖。全基因组测序技术已经证实该突变广泛存在于华氏巨球蛋白血症(WM)中,对WM的诊断、鉴别诊断、预后判断及治疗方面均有重要意义。酪氨酸激酶(BTK)抑制剂依鲁替尼的出现为WM的靶向治疗提供了选择。 |
| 英文摘要: |
| MYD88 L265P gene mutation refers to a single nucleotide change on chromosome 3p22.2,which can lead to abnormal activation of the NF-κB signaling pathway,thereby promoting malignant proliferation of cells.Whole genome sequencing has confirmed that the mutation is commonly recurring in Waldenstrom macroglobulinemia (WM),which is important for the diagnosis,differential diagnosis,prognosis and treatment of WM,especially the presence of Ibrutinib,an oral Bruton tyrosine kinase (BTK) inhibitor that provides targeted therapy for patients with WM. |
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