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.
Text Size: A A A
Published online


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.

Figures in this Article


Sign In to Access Full Content

Don't have Access?

Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more

Subscribe for full-text access to content from 1998 forward and a host of useful features

Activate your current subscription (AMA members and current subscribers)

Purchase Online Access to this article for 24 hours

First Page Preview

View Large
First page PDF preview


Place holder to copy figure label and caption
Graphic Jump Location

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.

Place holder to copy figure label and caption
Graphic Jump Location

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.




Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).
Submit a Comment


Some tools below are only available to our subscribers or users with an online account.

Sign In to Access Full Content

Related Content

Customize your page view by dragging & repositioning the boxes below.