Bilateral diffuse uveal melanocytic proliferation as a precursor to multiple systemic malignancies

Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare, intraocular paraneoplastic syndrome characterized by multiple, elevated, pigmented uveal lesions, diffuse thickening of the uveal tract, and rapidly progressive cataracts. We report a 70-year-old Caucasian male with an inferotemporal conjunctival-scleral pigmented lesion of the right eye. Funduscopy and ultrasonography revealed multiple elevated pigmented choroidal lesions in both eyes. Genome-wide single nucleotide polymorphism (SNP) analysis of intraoperative transscleral fine-needle aspiration biopsies from both eyes revealed a whole gain on chromosome 5. BDUMP was diagnosed, and the patient underwent a thorough systemic investigation, which was negative for an underlying malignancy; however, by maintaining a high index of suspicion, multiple malignancies were uncovered and appropriately treated over the ensuing years. This report presents the clinical, cytologic, and cytogenetic features of BDUMP, and is the first to demonstrate a novel finding of a whole gain in chromosome 5 by SNP analysis of the choroidal lesions. Additionally, this is the first case to potentially associate BDUMP and both transitional cell carcinoma of the bladder as well as renal clear cell carcinoma.