Class 2 Gene Expression Profile of a Hemorrhagic Pigment Epithelial Detachment Misdiagnosed as Melanoma

Abstract

Abstract Purpose To describe a case of a hemorrhagic pigment epithelial detachment that was initially misdiagnosed as a choroidal melanoma and had a class 2 gene expression profile (GEP) on prognostication fine needle aspiration biopsy (FNAB). Methods Retrospective case report Results A 79-year-old man with a history of atrial fibrillation treated with warfarin presented for guidance regarding systemic surveillance after undergoing prognostic FNAB at the time of episcleral plaque brachytherapy for a presumed cilio-choroidal melanoma. The results of GEP testing were consistent with a class 2 molecular profile. At three month and eight month follow up, the clinical, echographic, and optical coherence tomography (OCT) findings were consistent with a hemorrhagic pigment epithelial detachment (PED) rather than melanoma. By eight months, the lesion had completely resolved. Conclusions This is the first reported case of a GEP class 2 profile obtained from prognostic FNAB of a non-malignant lesion. Given that GEP is not a diagnostic test, it and can lead to erroneous prognostic information in the setting of non-melanoma choroidal lesions.