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

  • Neuro-Oncology (P. Wen, Section Editor)
  • Published:
Current Neurology and Neuroscience Reports Aims and scope Submit manuscript

Abstract

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.

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Authors and Affiliations

  1. Department of Pathology, Northwestern University, Simpson-Querrey 6-518, 303 East Superior St., Chicago, IL, 60611, USA

    Alexander Z. Feldman, Lawrence J. Jennings, Daniel J. Brat & Craig M. Horbinski

  2. Department of Pathology & Laboratory Medicine, Ann & Robert H. Lurie Children’s Hospital of Chicago, IL, Chicago, IL, USA

    Nitin R. Wadhwani

  3. Department of Neurological Surgery, Northwestern University, Chicago, IL, USA

    Craig M. Horbinski

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Alexander Z. Feldman, Lawrence J. Jennings, Nitin R. Wadhwani, Daniel J. Brat, and Craig M. Horbinski declare that they have no conflicts of interest.

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Feldman, A.Z., Jennings, L.J., Wadhwani, N.R. et al. The Essentials of Molecular Testing in CNS Tumors: What to Order and How to Integrate Results. Curr Neurol Neurosci Rep 20, 23 (2020). https://doi.org/10.1007/s11910-020-01041-7

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