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Letters |

Mutational Analysis of GNAQ and GNA11 to Aid Therapy Management of a Choroidal Melanoma Metastatic to the Contralateral Orbit

Michael R. R. Böhm, MD; Athanasios Tsianakas, MD; Ralph-Laurent Merté, MD; Meinhard Schiller, MD; Tilmann Spieker, MD; Albrecht Röpke, PhD; Andreas Bräuninger, PhD; Ulrike H. Grenzebach, MD
JAMA Ophthalmol. 2013;131(6):812-814. doi:10.1001/jamaophthalmol.2013.1921.
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Metastasis to the contralateral orbital cavity in uveal melanoma (UM) is extremely rare.1 Only 8 cases of such metastases have been reported, and none included mutational analysis. For the first time, to our knowledge, we report data from a mutational analysis of GNAQ and GNA11 supporting the diagnosis of a single metastatic tumor.

Correspondence: Dr Böhm, Department of Ophthalmology, University Hospital of Muenster, Albert Schweitzer Campus D1, Bldg D15, 48149 Muenster, Germany (michael.boehm@ukmuenster.de).

Published Online: April 9, 2013. doi:10.1001/jamaophthalmol.2013.1921

Author Contributions: Drs Böhm and Tsianakas share first authorship.

Conflict of Interest Disclosures: None reported.

Additional Contributions: The manuscript was edited by English Science Editing, Auckland, New Zealand. Solon Thanos, MD, PhD, provided comments that greatly improved the manuscript.

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Figure 1. Axial T2-weighted turbo spin-echo sequence magnetic resonance images of each orbit. A, Regular retrobulbar morphology 12 months prior to presentation. B, Upper intraconal, hypointense lesion (20 × 11 × 12 mm) detected at presentation. Tumor closely adjacent to the optic nerve and with infiltration of the rectus superior muscle was seen.

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Figure 2. Histopathological analysis and mutational analysis. Orbital specimen showed weakly pigmented epithelioid cells, strongly pigmented spindle cells, and scattered melanophages (hematoxylin-eosin, original magnification ×10) (A). Original sections of the enucleated eye showed comparable histopathological findings (hematoxylin-eosin, original magnification ×20 [B] and ×2 [C]). Sequence analysis of exon 4 showed identical mutations in GNA11 (c.547C > T) at codon 183 (p.R183C) in both metastasis (D) and primary choroidal melanoma (E). Evaluation of the patient's blood (F) and an adult control (G) revealed the wild type (WT) of GNA11 at codon 183. The DNA from tumor and peripheral blood cells was extracted using the QIAamp DNA Micro Kit (Qiagen) according to the manufacturer's instructions.

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