首页> 外文期刊>Neurocirugia >Identificación de alteraciones genéticas en oligodendrogliomas mediante amplificación dependiente de ligasa de múltiples sondas (MLPA) (multiple ligation-dependent probe amplification)
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Identificación de alteraciones genéticas en oligodendrogliomas mediante amplificación dependiente de ligasa de múltiples sondas (MLPA) (multiple ligation-dependent probe amplification)

机译:使用多重连接依赖性探针扩增(MLPA)鉴定少突胶质细胞瘤的遗传改变

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摘要

Concurrent deletion at 1p/19q is a common signature of oligodendrogliomas, and it may be identified in low-grade tumours (grade II) suggesting it represents an early event in the development of these brain neoplasms. Additional non-random changes primarily involve CDKN2A, PTEN and EGFR. Identification of all of these genetic changes has become an additional parameter in the evaluation of the clinical patients' prognosis, including good response to conventional che motherapy. Multiple ligation-dependent probe amplification (MLPA) analysis is a new methodology that allows an easy identification of the oligodendrogliomas' abnormalities in a single step. No need of the respective constitutional DNA from each patient is another advantage of this method. We used MLPA kits P088 and P105 to determine the molecular characteristics of a series of 40 oligodendrogliomas. Deletions at l p and 19q were identified in 45% and 65% of cases, respectively. Alterations of EGFR, CDKN2A, ERBB2, PTEN and TP53 were also identified in variable frequencies among 7% to 35% of tumours. These findings demonstrate that MLPA is a reliable technique to the detection of molecular genetic changes in oligodendrogliomas.
机译:在1p / 19q同时缺失是少突胶质细胞瘤的常见特征,它可能在低度肿瘤(II级)中被发现,表明它代表了这些脑肿瘤发展的早期事件。其他非随机变化主要涉及CDKN2A,PTEN和EGFR。所有这些遗传变化的鉴定已成为评估临床患者预后的一个附加参数,包括对常规化学疗法的良好反应。多重连接依赖性探针扩增(MLPA)分析是一种新方法,可在一个步骤中轻松识别少突胶质细胞瘤的异常。该方法的另一个优点是不需要来自每个患者的各个组成DNA。我们使用MLPA试剂盒P088和P105确定了一系列40例少突胶质细胞瘤的分子特征。在l p和19q处的缺失分别被确定为45%和65%。在7%至35%的肿瘤中,还以可变的频率发现了EGFR,CDKN2A,ERBB2,PTEN和TP53的变化。这些发现表明,MLPA是检测少突胶质细胞瘤分子遗传变化的可靠技术。

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