Multiplying Brown Spots

Abstract

Purpose : There are limited treatment options for bilateral diffuse uveal melanocytic proliferation (BDUMP). This case documents serial and sustained improvement of BDUMP with the initiation of immunotherapy and intravitreal dexamethasone implant. We confirmed the diagnosis through the patient’s serum that promoted the proliferation of human neonatal melanocytes in culture at an accelerated rate and the cytologic and genetic analysis of one of the ciliary body lesions that revealed an RB1 variant never before described in cases of presumed BDUMP.

Methods : Single case report of one patient at the Houston Methodist Hospital in Houston, Texas.

Results : A 65-year-old man reported a gradual decrease in vision and floaters in the right eye after cataract surgery. His vision on presentation was 20/50-1 and 20/25-2 in the right eye and left eye respectively. Fundus examination demonstrated a dull foveal reflex and diffuse multiple brown subretinal lesions bilaterally. Next-generation sequencing of the melanocytic tissue of the patient described in this case revealed a specific RB1 c.411A>T (p.Glu137Asp) variant with an allele frequency of 44.8%, consistent with heterozygosity. Plasma samples from the patient and a control patient with no history of cancer and/or paraneoplastic syndrome were cultured with neonatal melanocytes, which revealed a greater than 180% increase in proliferation of normal neonatal melanocytes compared to the control. Pembrolizumab therapy was initiated which resulted in shrinkage and stabilization of the lesions documented in serial diagnostic testing. The patient's vision has remained stable 3 years following the initial presentation.

Conclusions : In conclusion, we report a cytologically and serologically confirmed case of BDUMP in a patient with a primary non-small cell carcinoma of the lung. Next generation sequencing of melanocytic tissue of the patient described in this case revealed a specific RB1 c.411A>T (p.Glu137Asp) variant with an allele frequency of 44.8%, consistent with heterozygosity. Furthermore, we show documented serial improvement in the patient’s ocular and systemic disease with initiation of immunotherapy and intravitreal dexamethasone implant. At last, this case is one of the longest surviving confirmed cases of a patient with BDUMP.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.