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Genomic Alterations in Sporadic Pituitary Tumors

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

Abstract

Purpose of Review

Pituitary tumors are undergoing a transformation in histopathologic and molecular classification, coincident with the continued refinement of increasingly powerful methods of genomic annotation and discovery. We highlight novel genomic alterations identified in pituitary adenomas and craniopharyngiomas and discuss their clinical implications.

Recent Findings

Sporadic pituitary adenomas are associated with relatively few recurrent somatic mutations. Recurrent mutations occur largely in subsets of hormone-producing tumors, including GNAS and GPR101 in somatotroph adenomas and USP8 in corticotroph adenomas. Additionally, they manifest with a dichotomous signature of copy number alterations, ranging from almost none to widespread genome instability, while microduplication of chromosome Xq26.3, containing the GNAS gene, defines X-linked acrogigantism. Papillary craniopharyngiomas are defined by BRAFV600E mutations while β-catenin alterations characterize adamantinomatous craniopharyngiomas.

Summary

Genomic annotation of pituitary tumors is defining increasing subsets of neuroendocrine adenohypophyseal tumors and craniopharyngiomas, offering rationale-based pharmacologic targets and potential biomarkers for clinical outcome.

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Acknowledgments

The authors express gratitude to Winona W. Wu for illustration assistance.

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Authors and Affiliations

  1. Center for Skull Base and Pituitary Surgery, Department of Neurosurgery, Brigham and Women’s Hospital, Harvard Medical School, 75 Francis Street, BTM 4, Boston, MA, 02115, USA

    Wenya Linda Bi, Alexandra Giantini Larsen & Ian F. Dunn

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  1. Wenya Linda Bi
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  2. Alexandra Giantini Larsen
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  3. Ian F. Dunn
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Correspondence to Ian F. Dunn.

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Conflict of Interest

Wenya Linda Bi, Alexandra Giantini Larsen, and Ian F. Dunn declare no conflict of interest.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Neuro-Oncology

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Bi, W.L., Larsen, A.G. & Dunn, I.F. Genomic Alterations in Sporadic Pituitary Tumors. Curr Neurol Neurosci Rep 18, 4 (2018). https://doi.org/10.1007/s11910-018-0811-0

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  • DOI: https://doi.org/10.1007/s11910-018-0811-0

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