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June 2013

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

Author Affiliations

Author Affiliations: Faculty of Medicine, Interdisciplinary Center for Clinical Research, University of Muenster (Dr Böhm), and Departments of Ophthalmology (Drs Böhm, Merté, and Grenzebach) and Dermatology (Drs Tsianakas and Schiller), Gerhard Domagk Institute for Pathology (Drs Spieker and Bräuninger), and Institute of Human Genetics (Dr Röpke), University Hospital of Muenster, Muenster, Germany.

JAMA Ophthalmol. 2013;131(6):812-814. doi:10.1001/jamaophthalmol.2013.1921

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.

A 53-year-old man had right-sided retrobulbar pain persisting for 4 weeks. The patient had undergone enucleation of his left eye 3 years previously for choroidal melanoma (27 × 12 × 10 mm). At this time, no other malignant neoplasms were observed by chest radiography, abdominal ultrasonography, and dermatological examinations. Findings on yearly magnetic resonance imaging of the orbital cavities with a T2-weighted turbo spin-echo sequence were unremarkable until 12 months prior to presentation (Figure 1A). Visual acuity of the remaining eye was 20/20. Findings on further ophthalmological examinations were normal. No periorbital hyperpigmentation or axial proptosis was present. An axial T2-weighted turbo spin-echo sequence magnetic resonance image demonstrated a right-sided, upper intraconal, hypointense lesion (20 × 11 × 12 mm) (Figure 1B).

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