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From Prognostication to Personalized Medicine: Classification of Tumors of the Central Nervous System (CNS) Using Chromosomal Microarrays

  • Cytogenetics (CL Martin and E Williams, Section Editors)
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Abstract

Purpose of Review

Genomic profiling has led to a transformation in our understanding, and clinical management, of many tumors of the central nervous system (CNS). This has led to a paradigm shift in diagnostic evaluation of these tumors and necessitated an integrative approach that requires evaluation of both histological and molecular characteristics. Herein, we review the utility of chromosomal microarrays (CMAs) as a tool for improving diagnosis and prognosis in CNS tumors.

Recent Findings

Clinical laboratories around North America perform CMA analysis as part of routine diagnostic evaluation. By example this includes the detection of broad copy number aberrations, such as 1p/19q whole-arm co-deletion in oligodendroglioma, or complex patterns of imbalances including chromothriptic rearrangement of chromosome 11 in ependymomas with RELA fusions. Recent studies that have led to improvements in tumor diagnosis, prognostication, or directed therapeutic management are highlighted.

Summary

While the copy number-driven nature of CNS tumors has been long appreciated, only in recent years has this translated into clinical diagnostic applications. CMA represents an effective diagnostic tool for the molecular characterization of many CNS tumor entities, whose use will continue to expand our understanding of drivers of tumor biology and identify novel therapeutic targets.

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Authors and Affiliations

  1. Department of Pathology, Center for Advanced Molecular Diagnostics, Brigham and Women’s Hospital, 75 Francis St., CAMD 5-048, Boston, MA, 02115, USA

    Adrian M. Dubuc & Azra H. Ligon

  2. Harvard Medical School, Boston, MA, USA

    Adrian M. Dubuc & Azra H. Ligon

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  1. Adrian M. Dubuc
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Correspondence to Azra H. Ligon.

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Dubuc, A.M., Ligon, A.H. From Prognostication to Personalized Medicine: Classification of Tumors of the Central Nervous System (CNS) Using Chromosomal Microarrays. Curr Genet Med Rep 5, 117–124 (2017). https://doi.org/10.1007/s40142-017-0127-4

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