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

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吴芬;程坚;王俊;赵刚;陈苏宁;蒋慧;王谦;潘金兰;吴亚芳;丁家华;陈宝安;余正平
【期刊名称】《东南大学学报（医学版）》
【年(卷),期】2012(031)004
【摘要】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.%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.
【总页数】6页(P435-440)
【作者】吴芬;程坚;王俊;赵刚;陈苏宁;蒋慧;王谦;潘金兰;吴亚芳;丁家华;陈宝安;余正平
【作者单位】东南大学医学院,江苏,南京,210009;东南大学附属中大医院,血液科,江苏,南京,210009;东南大学附属中大医院,血液科,江苏,南京,210009;东南大学附属中大医院,血液科,江苏,南京,210009;东南大学附属中大医院,血液科,江苏,南
京,210009;江苏省血液病研究所,江苏,苏州,215006;江苏省血液病研究所,江苏,苏州,215006;江苏省血液病研究所,江苏,苏州,215006;江苏省血液病研究所,江苏,苏州,215006;江苏省血液病研究所,江苏,苏州,215006;东南大学附属中大医院,血液科,江苏,南京,210009;东南大学附属中大医院,血液科,江苏,南京,210009;东南大学附属中大医院,血液科,江苏,南京,210009
【正文语种】中文
【中图分类】R551.304
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