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Case Reports
. 2022 May 25:12:873252.
doi: 10.3389/fonc.2022.873252. eCollection 2022.

Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma

Michelle Prasuhn  1 , Josephine Christin Freitag  1 , Sabine Lüken  1 , Vinodh Kakkassery  1 , Hartmut Merz  2 , Almuth Caliebe  3 , Malte Spielmann  3 , Mahdy Ranjbar  1 , Felix Rommel  1
Affiliations
Case Reports

Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma

Michelle Prasuhn et al. Front Oncol. .

Abstract

The molecular mechanisms for uveal ring melanoma are still unclear until today. In this case report, we describe a patient with a malignant uveal melanoma with exudative retinal detachment that had been treated with plaque brachytherapy, resulting in successful tumor regression. After 1 year, a ring-shaped recurrence with extraocular extension appeared, and the eye required enucleation. Histological and molecular genetic analyses revealed an epithelioid-cell-type melanoma with complete circumferential involvement of the ciliary body and, so far, unreported GNAQ and SF3B1 mutations in ring melanoma. Therefore, this report gives new genetic background information on this ocular tumor usually leading to enucleation.

Keywords: GNAQ; SF3B1; brachytherapy; case report; ring melanoma; uveal melanoma.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Presentation of the initial tumor. (A) The image of the posterior pole illustrates a melanotic tumor with subretinal fluid. (B) The B-scan ultrasound reveals a multilobulated tumor with a size of 13.6 × 10.8 mm and a thickness of 6.0 mm and with surrounding subretinal fluid.
Figure 2
Figure 2
Presentation of the recurrence. (A) The slit-lamp examination of the anterior segment shows an episcleral sentinel vessel and vascularized, melanotic lesions infiltrating the iris circumferentially. (B) Close-up image focusing on the iridial lesions with vascularization. (C) The ultrasound biomicroscopy (UBM) of the temporal–inferior iridociliary junction illustrates the thickening of the iris. (D) The UBM of the inferior–anterior segment reveals ciliary body infiltration, measuring 2.75 × 3.84 mm at this site. With UBM, iridial and ciliary body thickening was unveiled circumferentially.
Figure 3
Figure 3
Histopathological examination. Hematoxylin and eosin stain of the iridociliary junction, magnification: ×10. (A) Superior, (B) nasal parts of the iris were missing due to paraffin embedding; (C) inferior; (D) temporal. All images expose infiltration of an epithelioid-cell-type tumor infiltrating the ciliary body.
Figure 4
Figure 4
The timeline illustrates the rapid disease course in this case. In about 1 year and 2 months, the patient received the primary diagnosis of uveal melanoma, underwent brachytherapy with good tumor regression, was treated for radiation retinopathy, then diagnosed with a ring-shaped relapse, and underwent enucleation of the eye. The left gray side lists important clinical features, and the right blue side demonstrates surgical interventions. IVI, intravitreal injection; Ru106, ruthenium-106; 23G, 23-gauge.
See this image and copyright information in PMC

References

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