骨髓增生异常综合征患者中TET2基因突变的检测与临床意义-东南大学学报医学版

骨髓增生异常综合征患者中TET2基因突变的检测与临床意义

作者：吴芬¹ 2 陈苏宁³ 蒋慧³ 王谦³ 潘金兰³ 吴亚芳³ 丁家华² 陈宝安² 余正平² 程坚² 王俊² 赵刚²

单位：1. 东南大学医学院,江苏南京 210009;
2. 东南大学附属中大医院血液科,江苏南京 210009;
3. 江苏省血液病研究所,江苏苏州 215006

分类号：R551.304

出版年·卷·期（页码）：2012·31·第四期（435-440）

摘要：

目的:探讨TET2基因在骨髓增生异常综合征(myelodysplastic syndromes,MDS)患者中突变发生率及对预后的影响。方法:随机选取95例初诊MDS患者,采用R显带技术进行常规核型分析(CC),PCR技术及直接测序法检测基因序列;分析该95例初诊MDS患者的临床和实验室特征。结果:95例初诊MDS患者中11例发生TET2基因突变,突变率为11.6%,其中6例发生错义突变,1例2次错义突变,2例无义突变,2例同义突变,5例TET2基因突变位点位于3号外显子上。95例MDS患者中位随访时间为13个月(2~73个月),伴有TET2基因突变的MDS患者中位生存期短于未发生该基因突变者且生存率较低(9个月vs 15个月,P<0.05)。结论:TET2基因突变是一种新型分子学异常,伴有该基因突变的MDS患者预后较差。

Objective: To investigate the frequency and the influence to prognosis of TET2 mutation in patients with myelodysplastic syndromes (MDS). Methods: Randomly, we chose 95 primary MDS patients. Genomic DNA from mononuclear cells in bone marrow was extracted by DNA kits and amplified through allele-specific polymerase chain reaction (PCR). TET2 gene sequences were detected directly. The clinical and laboratory features of the 95 primary MDS patients were analyzed. Results: In this study, TET2 mutation was found in 11 out of 95 patients with an incidence of 11.6%, containing 6 cases with missense mutation, 2 with nonsense mutation, 2 with same sense mutation, as well as 1 with both mutations, respectively. Amongst which, 5 cases were mutated in exon 3. Totally, during a median follow-up of 13 months (2~73 months), 9 primary MDS patients were found TET2 mutated while 51 patients were not. Compared to the unmutated group, the TET2 mutated group had shorter lives with a median survival of 9 months vs 15 months (P<0.05). Conclusion: TET2 mutation is a molecular abnormality commonly seen in MDS, with which patients might have a poor prognosis.

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