Small choroidal melanoma with monosomy 3

Abstract

To report a patient with small juxtapapillary choroidal melanoma with chromosome 3 monosomy treated with I(125) plaque and transpupillary thermotherapy (TTT). A 64-year-old Caucasian male presented with painless blurred vision of the left eye. Ocular examination disclosed a small juxtapapillary choroidal melanocytic tumor with overlying subretinal fluid and orange pigment. Ultrasound showed an elevated choroidal mass of 2 mm thickness with low reflectivity on A-scan and hollowness on B scan, consistent with a small choroidal melanoma. The patient was treated with plaque I(125) radiotherapy combined with one session of TTT. Genetic testing of the tumor cells obtained by fine needle aspiration biopsy showed chromosome 3 monosomy. At 1 year after treatment, the tumor was regressed with resolution of subretinal fluid and 20/40 visual acuity. A small choroidal melanoma can manifest monosomy of chromosome 3, a known predictive factor for the development of systemic metastasis.

Keywords: Choroidal Melanoma; Chromosome 3; Eye; Metastases; Monosomy; Small Choroidal Melanoma.

Figure 1

Small juxtapapillary choroidal melanoma with monosomy of chromosome 3. (A) Fundus exam showed a small juxtapapillary choroidal melanoma that measured 2 mm in thickness. Overlying orange pigment and subretinal fluid were visible. (B) Horizontal optical coherence tomography through the foveal area showed subfoveal debris and the elevated choroidal mass. The inset shows subretinal fluid over the tumor. (C) One year after plaque radiotherapy and thermotherapy, the melanoma showed regression to 1.2 mm thickness and with fine overlying intraretinal hemorrhages consistent with mild radiation retinopathy. (D) One year after treatment, the horizontal optical coherence tomography showed no subretinal fluid and flattened choroidal mass