Abstract
Purpose :
We describe clinical outcomes of nine patients with choroidal melanoma previously managed by a non-ocular oncologist, originally diagnosed as choroidal nevi. By time of presentation to ocular oncology, the tumors demonstrated severe clinical features.
Methods :
A retrospective case review of nine patients was performed. Each patient had pigmented choroidal lesions, formerly diagnosed as nevi, being managed by a non-ocular oncologist. All were subsequently referred to ocular oncology for continued management. We analyzed electronic medical records (EMR) for all eyes with treatment-requiring choroidal lesions. EMR from the initial visit with the non-ocular oncologist were evaluated for comparison to subsequent encounters with the ocular oncologist. Findings from retinal examination and diagnostic testing were evaluated to identify concerning features for growth. These features included: elevation, subretinal fluid, orange pigment, and absence of drusen. Eight patients received DecisionDx-UM (DDx-UM) genetic testing to evaluate metastatic risk. Additional tracking for systemic metastasis was gathered from medical oncology for correlation with DDx-UM results.
Results :
The nine patients displayed an average of 10 (range(r)= 1 to 29) visits prior to ocular oncology referral. Average time before referral was 8.3 (r= 0.9 to 14.6) years. Average lesion size in basal diameter (millimeters) at time of presentation was 10.1mm by 8.8mm (r= 7.6mm by 7.0mm to 13.2mm by 9.2mm) and 3.8mm (r= 2.1mm to 9.0mm) in thickness. All tumors displayed concerning features for growth. Choroidal melanoma was diagnosed in all patients by ocular oncology. All were treated with radiotherapy. DDx-UM results found three patients' gene expression profile(GEP) as Class 2, two as 1B and three as 1A. One patient tested PRAME positive. Next-Generation Sequencing identified three patients with genes correlated to higher risk for metastasis. One patient presented with metastasis at time of referral. Average follow-up time with ocular oncology after referral was 58.5 days (r= 13 to 197). One patient died from metastatic disease within one year of ocular oncology referral.
Conclusions :
Diagnosis of choroidal nevi can be difficult and lesions with severe metastatic potential may not be ruled out by a non-ocular oncologist. Referral to ocular oncology should be considered early to rule out concerning lesions and potentially avoid metastatic disease.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.