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Practical molecular diagnostics in neuropathology: making a tough job a little easier.

机译:神经病理学中的实用分子诊断:轻松完成一项艰巨的任务。

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Neuropathology is a challenging field, in large part because of the consequential decisions that must be made with small biopsy material. This is especially true concerning the most common primary brain tumor, the infiltrative glioma. Fortunately, abundant research has identified specific molecular alterations that are characteristic of gliomas, according to diagnostic class and tumor grade. Such alterations include 1p19q codeletion, EGFR amplification, p16 deletion, and IDH1/2 mutations. Using specific cases as examples, this review illustrates how molecular testing is of great help in avoiding misdiagnoses and enhancing the quality of information provided to clinicians.
机译:神经病理学是一个充满挑战的领域,很大程度上是因为必须使用小型活检材料做出相应的决定。对于最常见的原发性脑肿瘤,浸润性神经胶质瘤尤其如此。幸运的是,根据诊断类别和肿瘤等级,大量的研究已经确定了神经胶质瘤特有的特定分子改变。此类改变包括1p19q密码缺失,EGFR扩增,p16缺失和IDH1 / 2突变。本文以具体案例为例,阐述了分子检测在避免误诊和提高提供给临床医生的信息质量方面的巨大帮助。

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