原发性骨髓纤维化髓系肿瘤基因突变分析

杜晓鹏; 庄万传; 柴星星; 何广胜; 何耀; 孟凡静

doi:10.13201/j.issn.1004-2806.2021.03.004

原发性骨髓纤维化髓系肿瘤基因突变分析

- 1. 蚌埠医学院附属连云港市第二人民医院血液科(江苏连云港, 222000);
- 2. 江苏省人民医院血液科
基金项目:
江苏省“六大人才高峰”高层次人才培养计划(No:WSN-320)

详细信息

通讯作者: 庄万传,E-mail:wanchuanzhuang@163.com

中图分类号: R551.3

收稿日期: 2020-11-20

Sequencing study of gene mutations in myeloid tumors with primary myelofibrosis

- 1. Department of Hematology, Lianyungang Second People's Hospital, Bengbu Medical College, Lianyungang, 222000, China;
- 2. Departant of Hematology, Jiagsu Province People Hospital

More Information

Corresponding author: ZHUANG Wanchuan, E-mail: wanchuanzhuang@163.com

Received Date: 20 November 2020

摘要

摘要: 目的:探讨原发性骨髓纤维化(PMF)患者25种髓系肿瘤基因的表达及其与临床特征、预后的关系。方法:收集2013年4月—2019年2月连云港市第二人民医院和江苏省人民医院60例初诊PMF患者的临床资料,回顾性分析PMF患者髓系肿瘤基因二代测序结果与年龄、性别、血液学指标、生化指标、预后的关系。结果:60例初诊PMF患者中,43例(71.7%)PMF患者检测到突变,共累及18个突变基因,突变频率较高的基因分别为JAK2(27例,45%)、TET2(17例,28%)、ASXL1(9例,15%)、CALR(5例,8%)、U2AF1(5例,8%),其中三阴组(JAK2^-CALR^-MPL^-)29例(48%)、CALR^-ASXL1⁺6例(10%),17例(28%)未检测到任何突变。JAK2突变组白细胞计数(t=2.492,P=0.016)和血红蛋白含量(t=3.247,P=0.002)高于三阴组,CALR突变组血红蛋白含量(t=2.668,P=0.011)和血小板计数(t=2.731,P=0.009)高于三阴组。单因素生存分析显示,ASXL1突变组(P=0.050)、三阴组(P=0.001 8)、CALR^-/ASXL1⁺组(P=0.000 9)、男性(P=0.006)生存时间差;Cox多因素分析显示,ASXL1突变(P=0.022)、三阴组(P=0.001)、CALR^-/ASXL1⁺(P=0.028)、男性(P=0.050)是影响PMF生存的不良危险因素。结论:PMF患者基因突变率较高;JAK2、CALR基因突变与血液学特征有关;男性、ASXL1突变、三阴突变、CALR^-/ASXL1⁺突变因素与患者不良预后有关。
- 原发性骨髓纤维化 /
- 基因突变 /
- 临床特征 /
- 预后
Abstract: Objective: To investigate the relationship between the expression of 25 myeloid tumor genes in patients with primary myelofibrosis(PMF) and their clinical characteristics and prognosis.Methods: We retrospectively extracted the data on 60 patients with confirmed PMF from April 2013 to February 2019 in Lianyungang Second People's Hospital, Bengbu Medical College and Jiangsu Province Hospital. Clinical and laboratory characteristics were obtained from electronic medical records. The correlation between second-generation sequencing results of myeloid tumor genes and hematological parameters were analyzed.Results: Mutations were detected in 43 patients(71.7%) with PMF, involving a total of 18 mutated genes. The genes with high mutation frequency were JAK2(27/60, 45%), TET2(17/60, 28%), ASXL1(9/60, 15%), and CALR(5/60, 8%), U2 AF1(5/60, 8%). There were 29 cases(29/60, 48%) in triple-negative primary myelofibrosis group(JAK2^-/CALR^-/MPL^-), 6 cases(6/60, 10%) in CALR^-/ASXL1⁺group, 17 cases(17/60, 28%) did not detect any mutation. The white blood cell count(t=2.492, P=0.016) and hemoglobin content(t=3.247, P=0.002) in the JAK2 mutation group were higher than those in the triple-negative primary myelofibrosis group, while the hemoglobin content(t=2.668, P=0.011) and platelet count(t=2.731, P=0.009) in the CALR mutation group were higher than those in the triple-negative primary myelofibrosis group. Univariate survival analysis showed that ASXL1 mutation group(P=0.050) and triple-negative primary myelofibrosis group(P=0.001 8), CALR^-/ASXL1⁺group(P=0.000 9) and male group(P=0.006) had survival time difference. Cox multivariate analysis showed that ASXL1 mutation(P=0.022) and triple-negative primary myelofibrosis group(P=0.001) and CALR^-/ASXL¹⁺mutation(P=0.028) and males group(P=0.050) were adverse risk factors for PMF survival.Conclusion: PMF patients have a higher mutation rate. Mutations in JAK2 and CALR genes are associated with hematological characteristics. Male, ASXL1 mutation, triple negative mutation, CALR^-/ASXL1⁺mutation are associated with poor prognosis in patients with PMF.
- primary myelofibrosis /
- gene mutation /
- clinical features /
- prognosis

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