The Essentials of Molecular Testing in CNS Tumors: What to Order and How to Integrate Results

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 FindingsMany 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.SummaryA 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.
Source: Current Neurology and Neuroscience Reports - Category: Neuroscience Source Type: research