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01-10-2019 | Original Article

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

Authors: Bjoern Schneider, Katrin Riedel, Andrey Zhivov, Maja Huehns, Heike Zettl, Rudolf F. Guthoff, Anselm Jünemann, Andreas Erbersdobler, Annette Zimpfer

Published in: Pathology & Oncology Research | Issue 4/2019

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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Title: Frequent and Yet Unreported GNAQ and GNA11 Mutations are Found in Uveal Melanomas
Authors: Bjoern Schneider
Katrin Riedel
Andrey Zhivov
Maja Huehns
Heike Zettl
Rudolf F. Guthoff
Anselm Jünemann
Andreas Erbersdobler
Annette Zimpfer
Publication date: 01-10-2019
Publisher: Springer Netherlands
Published in: Pathology & Oncology Research / Issue 4/2019
Print ISSN: 1219-4956
Electronic ISSN: 1532-2807
DOI: https://doi.org/10.1007/s12253-017-0371-7

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