Fuller Christine E, Perry Arie
Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN 38105, and Division of Neuropathology, Washington University School of Medicine, St. Louis, MO, USA.
Adv Anat Pathol. 2005 Jul;12(4):180-94. doi: 10.1097/01.pap.0000175117.47918.f7.
Central nervous system (CNS) neoplasms can be diagnostically challenging, due to remarkably wide ranges in histologic appearance, biologic behavior, and therapeutic approach. Nevertheless, accurate diagnosis is the critical first step in providing optimal patient care. As with other oncology-based specialties, there is a rapidly expanding interest and enthusiasm for identifying and utilizing new biomarkers to enhance the day-to-day practice of surgical neuropathology. In this regard, the field is primed by recent advances in basic research, elucidating the molecular mechanisms of tumorigenesis and progression in the most common adult and pediatric brain tumors. Thus far, few have made the transition into routine clinical practice, the most notable example being 1p and 19q testing in oligodendroglial tumors. However, the field is rapidly evolving and many other biomarkers are likely to emerge as useful ancillary diagnostic, prognostic, or therapeutic aids. The goal of this article is to highlight the most common genetic alterations currently implicated in CNS tumors, focusing most on those that are either already in common use in ancillary molecular diagnostics testing or are likely to become so in the near future.
中枢神经系统（CNS）肿瘤在诊断上具有挑战性，这是因为其在组织学表现、生物学行为和治疗方法方面存在显著的广泛差异。然而，准确诊断是提供最佳患者护理的关键第一步。与其他基于肿瘤学的专业一样，人们对识别和利用新的生物标志物以改善外科神经病理学的日常实践的兴趣和热情正在迅速增长。在这方面，基础研究的最新进展为该领域奠定了基础，阐明了最常见的成人和儿童脑肿瘤的肿瘤发生和进展的分子机制。到目前为止，很少有生物标志物已过渡到常规临床实践，最显著的例子是少突胶质细胞瘤中的1p和19q检测。然而，该领域正在迅速发展，许多其他生物标志物可能会成为有用的辅助诊断、预后或治疗工具。本文的目的是突出目前与中枢神经系统肿瘤相关的最常见基因改变，重点关注那些已经在辅助分子诊断检测中常用或可能在不久的将来变得常用的基因改变。
