Department of Pathology and Laboratory Medicine, University of Kentucky, Lexington, Kentucky 40536, USA.
Semin Diagn Pathol. 2010 May;27(2):105-13. doi: 10.1053/j.semdp.2010.04.001.
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.
神经病理学是一个具有挑战性的领域,很大程度上是因为必须根据小的活检材料做出重要的决策。对于最常见的原发性脑肿瘤——浸润性神经胶质瘤来说尤其如此。幸运的是,大量研究已经确定了胶质细胞瘤特有的特定分子改变,根据诊断类别和肿瘤分级而定。这些改变包括 1p19q 缺失、EGFR 扩增、p16 缺失和 IDH1/2 突变。本文通过具体的病例示例说明了分子检测如何极大地帮助避免误诊并提高向临床医生提供的信息质量。