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Molecular Pathology Techniques

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Molecular Pathology of Nervous System Tumors

Part of the book series: Molecular Pathology Library ((MPLB,volume 8))

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Abstract

Several well-established techniques are currently used in molecular neuropathology. Analyses include copy-number changes, mutations, and epigenetic modification assessed most commonly by FISH, PCR, sequencing or mutation-specific antibodies. From the technical perspective, once validated, these techniques are robust and require minimal troubleshooting. The most commonly performed tests with the largest clinical impact include MGMT promoter methylation, 1p/19q status, and IDH1 mutation. These assays should be incorporated both within routine clinical care and within clinical trial designs. When used in the right clinical context after neuropathology review and with appropriate interpretation guidelines, they can provide diagnostic, prognostic, and predictive information that can help guide clinical management. At the present time, the number of assays that can be performed on brain tumors and the information that can be obtained are significantly greater than what can be used for practical diagnostic and clinical purposes. Careful retrospective and prospective validation of molecular genetic alterations and profiles for prognostic and predictive value will be required in clinical studies before implementation into routine diagnostics and clinical care.

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Author information

Authors and Affiliations

  1. Department of Pathology, NYU Langone Medical Center, 560 First Avenue, Tisch Hospital HW 451, New York, NY, 10016, USA

    Matija Snuderl M.D.

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  1. Matija Snuderl M.D.
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Correspondence to Matija Snuderl M.D. .

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Editors and Affiliations

  1. Associate Professor of Pediatrics and Otolaryngology, NYU Langone Medical Center, New York, New York, USA

    Matthias A. Karajannis

  2. Professor of Pathology and Neurosurgery, NYU Langone Medical Center, New York, New York, USA

    David Zagzag

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Snuderl, M. (2015). Molecular Pathology Techniques. In: Karajannis, M., Zagzag, D. (eds) Molecular Pathology of Nervous System Tumors. Molecular Pathology Library, vol 8. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-1830-0_3

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  • DOI: https://doi.org/10.1007/978-1-4939-1830-0_3

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  • Online ISBN: 978-1-4939-1830-0

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