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Frequent and Yet Unreported GNAQ and GNA11 Mutations are Found in Uveal Melanomas

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Pathology & Oncology Research

Abstract

Malignant melanoma of the uvea is the most common primary malignant tumor in the eye. We aimed to analyze GNAQ and GNA11 mutations in uveal melanomas using formalin-fixed, paraffin-embedded material and correlate the results with clinicopathological parameters. Tumor tissue was microdissected followed by amplification of GNAQ exon 4 and 5, GNA11 exon 4 and 5, and finally analyzed by Sanger sequencing. A total of 64.4 GNA11/GNAQ mutations, including ten yet unreported, were found. Two cases showed multiple mutations. Overall survival was significantly shorter in the uveal melanoma cohort with GNAQ exon 5 mutation. In concordance with previous studies, high frequencies of mutations in GNAQ or GNA11 were detected. Interestingly, in about 20% of UM, not yet reported mutations in GNAQ or GNA11 were seen. Rarely, uveal melanoma may harbor double mutations in GNAQ and/or GNA11. Recent data imply, that implementation of GNAQ/GNA11 mutation analysis in routine diagnostic procedures might be helpful for future therapeutic decisions.

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Acknowledgements

We warmly thank Mrs. Westphal, Mrs. Stegemann and Mrs. Schmidtgen for technical assistance. We thank Dr. S.-K. Kraeft, MD for linguistic proofreading of the manuscript.

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Authors and Affiliations

  1. Institute of Pathology, University Medicine Rostock, Strempelstraße 14, 18055, Rostock, Germany

    Bjoern Schneider, Maja Huehns, Andreas Erbersdobler & Annette Zimpfer

  2. Department of Ophthalmology, University Medicine Rostock, Rostock, Germany

    Katrin Riedel, Rudolf F. Guthoff & Anselm Jünemann

  3. OSG MVZ Betriebs GmbH, Ophtalmology, OMS, Anesthetics, Bamberg, Germany

    Andrey Zhivov

  4. Clinical Cancer Registry, University Medicine Rostock, Rostock, Germany

    Heike Zettl

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  1. Bjoern Schneider
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Correspondence to Bjoern Schneider.

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Schneider, B., Riedel, K., Zhivov, A. et al. Frequent and Yet Unreported GNAQ and GNA11 Mutations are Found in Uveal Melanomas. Pathol. Oncol. Res. 25, 1319–1325 (2019). https://doi.org/10.1007/s12253-017-0371-7

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  • DOI: https://doi.org/10.1007/s12253-017-0371-7

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