免疫组织化学替代物在胶质瘤中诊断特征分子遗传改变的应用

J. Tanboon, E. Williams, D. Louis
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引用次数: 82

摘要

许多影响治疗和预后的关键突变已经在人类胶质瘤中被确定。在肿瘤样本中识别这些突变的两种主要方法是直接询问突变DNA本身和免疫组织化学来评估突变基因对蛋白质的影响。免疫组织化学是一种廉价、强大、广泛可用的技术,已经存在了几十年。因此,使用免疫组织化学方法来评估分子遗传变化已成为最先进实践的重要组成部分。相比之下,尽管DNA测序技术正在快速发展,但许多医疗中心无法获得这种方法,而且将这种测试送到参考实验室的费用相对较高,可能会阻碍这种方法的发展。本文综述了目前使用神经胶质瘤样本免疫组织化学鉴定IDH1、TP53、ATRX、组蛋白H3基因、BRAF、EGFR、MGMT、CIC和FUBP1突变的经验,以及谨慎使用DNA测序作为补充方法的指南。
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The Diagnostic Use of Immunohistochemical Surrogates for Signature Molecular Genetic Alterations in Gliomas
A number of key mutations that affect treatment and prognosis have been identified in human gliomas. Two major ways to identify these mutations in a tumor sample are direct interrogation of the mutated DNA itself and immunohistochemistry to assess the effects of the mutated genes on proteins. Immunohistochemistry is an affordable, robust, and widely available technology that has been in place for decades. For this reason, the use of immunohistochemical approaches to assess molecular genetic changes has become an essential component of state-of-the-art practice. In contrast, even though DNA sequencing technologies are undergoing rapid development, many medical centers do not have access to such methodologies and may be thwarted by the relatively high costs of sending out such tests to reference laboratories. This review summarizes the current experience using immunohistochemistry of glioma samples to identify mutations in IDH1, TP53, ATRX, histone H3 genes, BRAF, EGFR, MGMT, CIC, and FUBP1 as well as guidelines for prudent use of DNA sequencing as a supplemental method.
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