Novel dynamin 2 mutations in adult T-cell acute lymphoblastic leukemia
Novel dynamin 2 mutations in adult T-cell acute lymphoblastic leukemia
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成人 T 细胞急性淋巴细胞白血病的新型动力 2 突变
DOI：
10.3892/ol.2016.4993
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发表时间：
2016-10-01
期刊：
影响因子：
2.9
通讯作者：
Song, Chunhua
中科院分区：
文献类型：
--
作者：
Ge, Zheng;Li, Min;Song, Chunhua
在T细胞急性淋巴细胞白血病（T-ALL）患者中发现了信号通路的基因突变，并作为高危白血病的标志物。动力蛋白2（DNM 2）突变已在T-ALL中报告，特别是在早期T细胞趋化性ALL中。在本研究中，DNM 2突变筛查DNM 2外显子获得聚合酶链反应扩增和凝胶纯化成人T-ALL患者的测序。在成人T-ALL患者中共发现4种新的DNM 2突变，突变率为9.5%，发现DNM 2突变与NOTCH 1和PHD指蛋白6共存，也与高危白血病相关。在患者中也发现了高比率的沉默突变，但未发现沉默突变与患者的临床特征之间存在显著关联。提示DNM 2基因突变可能参与T-ALL的发生。
Genetic mutations on signaling pathways are found in patients with T-cell acute lymphoblastic leukemia (T-ALL) and act as markers of high-risk leukemia. Mutations in dynamin 2 (DNM2) have been reported in T-ALL, particularly in early T-cell precursor-ALL. In the present study, DNM2 mutations were screened by sequencing DNM2 exons obtained by polymerase chain reaction amplification and gel purification in adult T-ALL patients. A total of 4 novel DNM2 mutations were identified in adult T-ALL patients, with a mutation rate of 9.5%, and the DNM2 mutations were found to co-exist with NOTCH1 and PHD finger protein 6, and were also associated with high-risk leukemia. A high rate of silent mutation was also found in the patients, but no significant association was found between the silent mutations and patients' clinical features. The present findings suggested the DNM2 mutations may be involved in the oncogenesis of T-ALL.