Molecular testing has become part of the routine diagnostic workup of brain tumors after the implementation of integrated histomolecular diagnoses in the 2016 WHO classification update. It is important for every neuropathologist to be aware of practical preanalytical, analytical, and postanalytical factors that impact the performance and interpretation of molecular tests. Prior to testing, optimizing tumor purity and tumor amount increases the ability of the molecular test to detect the genetic alteration of interest. Recognizing basic molecular testing platform analytical characteristics allows selection of the optimal platform for each clinicopathological scenario. Finally, postanalytical considerations to properly interpret molecular test results include understanding the clinical significance of the detected genetic alteration, recognizing that detected clinically significant genetic alterations are occasionally germline constitutional rather than somatic tumor-specific, and being cognizant that recommended and commonly used genetic nomenclature may differ. Potential pitfalls in brain tumor molecular diagnosis are also discussed.

中文翻译：

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每个神经病理学家都需要知道的：脑肿瘤分子诊断中的实际方面和陷阱

在 2016 年 WHO 分类更新中实施综合组织分子诊断后，分子检测已成为脑肿瘤常规诊断检查的一部分。对于每位神经病理学家来说，了解影响分子测试性能和解释的实际分析前、分析和分析后因素非常重要。在测试之前，优化肿瘤纯度和肿瘤数量会增加分子测试检测感兴趣的基因改变的能力。识别基本的分子检测平台分析特征允许为每个临床病理学场景选择最佳平台。最后，正确解释分子检测结果的分析后考虑包括了解检测到的基因改变的临床意义，认识到检测到的临床显着遗传改变有时是种系构成而非体细胞肿瘤特异性，并认识到推荐和常用的遗传命名可能不同。还讨论了脑肿瘤分子诊断中的潜在缺陷。