Purpose of Review

Molecular testing has become essential for the optimal workup of central nervous system (CNS) tumors. There is a vast array of testing from which to choose, and it can sometimes be challenging to appropriately incorporate findings into an integrated report. This article reviews various molecular tests and provides a concise overview of the most important molecular findings in the most commonly encountered CNS tumors.

Recent Findings

Many molecular alterations in CNS tumors have been identified over recent years, some of which are incorporated into the 2016 World Health Organization (WHO) classification and the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy-Not Official WHO (cIMPACT-NOW) updates. Array-based methylation profiling has emerged over the past couple of years and will likely replace much of currently used ancillary testing for diagnostic purposes.

Summary

A combination of next-generation sequencing (NGS) panel and copy number array is ideal for diffuse gliomas and embryonal tumors, with a low threshold to employ in other tumor types. With the recent advances in molecular diagnostics, it will be ever more important for the pathologist to recognize the molecular testing available, which tests to perform, and to appropriately integrate results in light of clinical, radiologic, and histologic findings.

中文翻译：

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中枢神经系统肿瘤分子检测的要点：订购什么以及如何整合结果。

审查目的

分子检测对于中枢神经系统（CNS）肿瘤的最佳检查已变得至关重要。有大量的测试可供选择，有时候将发现适当地整合到一个综合报告中有时会是一个挑战。本文回顾了各种分子测试，并简要概述了最常见的中枢神经系统肿瘤中最重要的分子发现。

最近的发现

近年来已发现CNS肿瘤中的许多分子改变，其中一些已纳入2016年世界卫生组织（WHO）分类以及告知CNS肿瘤分类学的分子和实用方法的联盟-非官方WHO（cIMPACT-NOW）更新。基于阵列的甲基化分析已在过去的几年中出现，并将有可能取代许多目前用于诊断目的的辅助测试。

概要

下一代测序（NGS）面板和拷贝数阵列的组合非常适合弥漫性神经胶质瘤和胚胎肿瘤，并且在其他肿瘤类型中的门槛很低。随着分子诊断学的最新进展，对于病理学家来说，认识可用的分子检测，执行哪种检测以及根据临床，放射学和组织学发现适当整合结果将变得越来越重要。