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Letters |

Mutation of GNAQ in a Cytologically Unusual Choroidal Melanoma in an 18-Month-Old Child

Steve Daniel Levasseur, MD; Katherine E. Paton, MD, FRCSC; Catherine D. Van Raamsdonk, BSc, MA, PhD; Manraj K. S. Heran, MD, FRCPC; Valerie Ann White, MD, MHSc, FRCPC
JAMA Ophthalmol. 2013;131(6):810-812. doi:10.1001/jamaophthalmol.2013.2483.
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Fewer than 1% of uveal melanomas (UMs) occur in patients younger than 20 years.1 We report a histologically unusual UM in a child that was confirmed by the presence of a GNAQ somatic mutation.

Correspondence: Dr Levasseur, Department of Ophthalmology and Visual Sciences, University of British Columbia, 2550 Willow St, Vancouver, BC V5Z 3N9, Canada (levasseur.steve@gmail.com).

Published Online: April 9, 2013. doi:10.1001/jamaophthalmol.2013.2483

Conflict of Interest Disclosures: None reported.

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Figure 1. Magnetic resonance images and clinical photograph. Axial non–fat-saturation T2-weighted (A), contrast-enhanced T1-weighted (B), and axial fat-saturation T1-weighted (C) magnetic resonance images show a uniformly enhancing right intraocular mass (asterisks in A and C). Note the deformation of the sclera adjacent to the mass (arrow in A), with no evidence of scleral, extrascleral, or optic nerve extension. The right globe is smaller than the left. The retinal detachment is well seen (arrowhead) on the T2-weighted image (A). D, The enucleated globe shows a solid cream-colored tumor in the posterior choroid. Note the complete retinal detachment and gelatinous subretinal fluid.

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Figure 2. Histopathologic analysis and DNA sequence of GNAQ. A, Low-power photomicrograph shows regular polygonal-shaped cells with vascular spaces lined by tumor cells. Note the low nuclear to cytoplasmic ratio with vesicular nuclei, indistinct nucleoli, and lack of mitoses (hematoxylin-eosin, original magnification ×100). Inset, Scant melanin pigmentation is visible on Fontana-Masson staining (original magnification ×400). B, High-power photomicrograph shows the low nuclear to cytoplasmic ratio with vesicular nuclei, indistinct nucleoli, and lack of mitoses (hematoxylin-eosin, original magnification ×400). C, The melanoma stains strongly for Melan-A (avidin-biotin immunoperoxidase, hematoxylin counterstain, original magnification ×400). D, It also stains strongly for HMB-45 and S-100 protein (not shown) (avidin-biotin immunoperoxidase, hematoxylin counterstain, original magnification ×400). E, The DNA sequence shows the heterozygous CAA to CTA mutation in exon 5 of GNAQ, causing substitution of glutamine by leucine.

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