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Gone FISHing: Clinical Lessons Learned in Brain Tumor Molecular Diagnostics over the Last Decade

Authors

  • Craig Horbinski MD, PhD,

    Corresponding author
    1. Department of Pathology, University of Kentucky, Lexington, Ky.
      Craig Horbinski, MD, PhD, Department of Pathology, University of Kentucky, MS-112, 800 Rose Street, Lexington, KY 40536 (Email: craig.horbinski@uky.edu)
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  • C Ryan Miller MD, PhD,

    1. Department of Pathology, University of North Carolina, Chapel Hill, Nc.
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  • Arie Perry MD

    1. Department of Pathology, University of California, San Francisco (UCSF), San Francisco, Ca.
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Craig Horbinski, MD, PhD, Department of Pathology, University of Kentucky, MS-112, 800 Rose Street, Lexington, KY 40536 (Email: craig.horbinski@uky.edu)

Abstract

Fluorescence in situ hybridization (FISH) is a powerful, morphology-based technique to assess targeted copy number alterations or gene rearrangements in formalin-fixed, paraffin-embedded tissues. It has a wide range of applications in routine clinical contexts to identify cytogenetic biomarkers for more accurate diagnosis and prognostic stratification. This review and update addresses practical uses of FISH as a molecular diagnostic tool in the setting of brain tumors, including gliomas, embryonal neoplasms, ependymomas and meningiomas, focusing on key genetic biomarkers, such as 1p19q codeletion, epidermal growth factor receptor (EGFR) gene amplification, BRAF rearrangement and many others. Also discussed are lessons learned over the past decade, including common technical issues to consider when implementing and interpreting FISH results in a clinical setting.

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