国际肿瘤学杂志

国际肿瘤学杂志 ›› 2012, Vol. 39 ›› Issue (4): 307-310.

• 综述 • 上一篇    下一篇

基因突变与骨髓增殖性肿瘤表型的相关性

冯秀, 欧阳建, 周敏   

  1. 210008南京，东南大学医学院研究生院 南京鼓楼医院血液科
  • 出版日期:2012-04-08 发布日期:2012-03-28

Gene mutations and the phenotype of BCR/ABL-negative myeloproliferative neoplasms

FENG  Xiu, OU Yang-Jian, ZHOU  Min   

  1. Department of Hematology, Nanjing Drum Tower Hospital, Nanjing 210000, China

  • Online:2012-04-08 Published:2012-03-28

被引次数

2

摘要： 酪氨酸激酶2（JAK2）、人血小板生成素受体（MPL）、TET癌基因家族成员2（TET2）等基因突变在BCR/ABL融合基因阴性的骨髓增殖性肿瘤（MPN）中影响了多种细胞因子传导信号通路。这些基因突变在突变负荷水平、共存突变及遗传易感性等因素共同作用下，可诱导出不同的MPN表型，并影响发病人群特征、外周血细胞分布及疾病预后。但是这些基因突变的发生对疾病的发生、发展及转化中的复杂作用仍有待进一步研究。

关键词: 基因, 突变, 骨髓增殖性疾病, 表型

Abstract: JAK2, MPL and TET2 mutations affect a variety of cytokines signal transduction pathway in BCR/ABL-negative myeloproliferative neoplasms (MPN). In the influence of mutation load, co-mutation and genetic susceptibility, these mutations can induce different MPN phenotypes, and affect the characteristics of patients, the distribution of peripheral blood cells and prognosis. But how these mutations contribute to disease initiation, development, and transformation needs further research.

Key words: font-size: 12pt, mso-fareast-font-family: 宋体, mso-ansi-language: EN-US, mso-fareast-language: ZH-CN, mso-bidi-language: AR-SA" lang="EN-US">Genes, font-size: 12pt, mso-fareast-font-family: 宋体, mso-ansi-language: EN-US, mso-fareast-language: ZH-CN, mso-bidi-language: AR-SA" lang="EN-US">Mutation, font-size: 12pt, mso-fareast-font-family: 宋体, mso-ansi-language: EN, mso-fareast-language: ZH-CN, mso-bidi-language: AR-SA" lang="EN">Myeloproliferative disorders, font-size: 12pt, mso-fareast-font-family: 宋体, mso-ansi-language: EN-US, mso-fareast-language: ZH-CN, mso-bidi-language: AR-SA" lang="EN-US">Phenotype