| 赵越,苏雁华,高玉娟,等.骨髓增殖性肿瘤非驱动基因突变对疾病表型的影响[J].安徽医药,2022,26(11):2166-2170. |
| 骨髓增殖性肿瘤非驱动基因突变对疾病表型的影响 |
| Effect of non-driver gene mutation on disease phenotype in myeloproliferative neoplasm |
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| DOI：10.3969/j.issn.1009-6469.2022.11.011 |
| 中文关键词: 骨髓增殖性疾病 基因突变 白血病转化 分子机制 |
| 英文关键词: Myeloproliferative disorders Gene mutation Leukemic transformation Molecular mechanisms |
| 基金项目:哈尔滨医科大学附属第一医院科研创新基金( 2018Y002) |
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| 中文摘要: |
| 骨髓增殖性肿瘤( MPN)驱动突变包括 JAK2、CALR和 MPL，三种突变基因与临床的相关性已被广泛研究，而近几年随着二代测序技术在临床上推广应用，使人们对 MPN相关受累基因突变有了更深的认识。 DNA甲基化修饰剂、染色质修饰剂、剪接体复合物和肿瘤抑制因子等共存非驱动突变被认为是疾病进展和白血病转化的主要途径，如 TET2突变之前获得 JAK2突变的病人具有更严重的表型，并且患血栓形成的风险增加； DNMT3A功能丧失抑制红系增殖并引起骨髓内和肝内纤维化并浸润脾脏，还会导致异常的自我更新和炎症信号通路； ASXL1和 IDH2突变与异体干细胞移植后预后不良相关。本文就几类较为常见的非驱动突变在 MPN中与疾病的演变和致病机制进行综述。 |
| 英文摘要: |
| The driving mutations of myeloproliferative neoplasm (MPN) include JAK2, CALR and MPL. The correlation between thethree mutant genes and the clinic has been extensively studied. In recent years, the clinical application of second-generation sequenc.ing technology has made people more aware of MPN. A deeper understanding of related affected gene mutations provides a new clonalmolecular marker for disease diagnosis, coexisting non-driver mutations such as DNA methylation modifiers, chromatin modifiers, spli.ceosome complex components and tumour suppressors are considered to be the main pathways for disease progression and leukemiatransformation, such as TET2 mutations patients with JAK2 mutations previously have a more severe phenotype and an increased riskof thrombosis; loss of DNMT3A function inhibits erythroid proliferation and causes intramarrow and intrahepatic fibrosis and infiltratesthe spleen, as well as abnormal self-renewal and inflammation signaling pathway; ASXL1 and IDH2 mutations are associated with poorprognosis after allogeneic stem cell transplantation. This article reviews the evolution and pathogenic mechanism of several types of more common non-driver mutations in MPN. |
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