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Leukemia：科学家发现PTEN突变类型与T-ALL疾病预后相关

2018-01-04 MedSci MedSci原创

T-ALLPTEN疾病预后
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PTEN缺失对疾病预后的影响也与其基因突变的类型有关，而这也提示在临床治疗中对异常类型的细节分析更有利于对疾病危险分级。

急性T淋巴白血病是一种以未成熟T淋巴细胞克隆性增生为代表的疾病。肿瘤抑制基因PTEN在急性T淋巴细胞白血病过程中通常会发生改变，例如截断突变，大片段缺失和微小缺失等。而在GRAALL03/05方案治疗的成人患者中，RAS/PTEN改变预示个体预后差，但是PTEN基因改变对疾病预后的影响并不清楚。

科学家筛选573位包括成年人以及儿童的T-ALL患者，检测他们的PTEN基因的突变情况。PTEN失活突变或者缺失出现在了91位患者体内，其中有突变的儿童患者占18%（49/277），有突变的成人患者占14%（42/296）。而34位患者的PTEN基因仅发生突变，12位患者的PTEN基因出现了大片段缺失，9位有小片段缺失。36位患者PTEN基因出现了多种情况的改变。PTEN失活的机制不同也预示着临床预后的不同，这个结果在使用GRAALL03/05和FRALLE2000治疗方案的成人和儿童患者中都观察到了。而PTEN基因的大片段的缺失预示着较低的5年总生存期和无病生存期，基因的位点突变与预后不良没有直接的关系。PTEN缺失对疾病预后的影响也与其基因突变的类型有关，而这也提示在临床治疗中对异常类型的细节分析更有利于对疾病危险分级。

原文出处：Tesio M， Trinquand A， Ballerini P， et al. Age-related clinical and biological features of PTEN abnormalities in T-cell acute lymphoblastic leukaemia[J]. Leukemia， 2017， 31(12)： 2594.doi：10.1038/leu.2017.157.

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    2018-04-04 ms2694732865965676

    #疾病预后#

    0

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    2018-10-27 旅苦化文_208

    #科学家发现#

    0

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    2018-01-06 xiaogang317

    #PTEN#

    0

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    2018-01-06 膀胱癌

    #ALL#

    0

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    2018-01-06 紫砂壶

    #T-ALL#

    0

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