Early diagnosis and successful treatment of paraneoplastic melanocytic proliferation

Abstract

BackgroundParaneoplastic melanocytic proliferation (bilateral diffuse uveal melanocytic proliferation, BDUMP) is a rare but devastating disease that causes progressive visual loss in patients who usually have an occult malignancy. Visual loss occurs as a result of paraneoplastic changes in the uveal tissue.MethodsIn a masked fashion, the serum of two patients with BDUMP was evaluated for the presence of cultured melanocyte elongation and proliferation (CMEP) factor using cultured human melanocytes. We evaluated the efficacy of plasmapheresis as a treatment modality early in the disease in conjunction with radiation and chemotherapy.ResultsThe serum of the first case patient was investigated after plasmapheresis and did not demonstrate proliferation of cultured human melanocytes. The serum of the second case was evaluated prior to treatment with plasmapheresis and did induce this proliferation. These findings are in accordance with the diminution of CMEP factor after plasmapheresis. Treatment with plasmapheresis managed to stabilise the ocular disease progression in both patients.ConclusionsIn the past, visual loss due to paraneoplastic melanocytic proliferation was considered progressive and irreversible. We treated two patients successfully with plasmapheresis and demonstrated a relation between CMEP factor in the serum of these patients and proliferation of cultured melanocytes.

Bilateral diffuse uveal melanocytic proliferation: Case report and literature review

“…This observation was further supported by Jansen et al. () , who reported two cases of BDUMP in whom serum were collected. In the first patient, serum was collected after plasmapheresis and in the second patient before plasmapheresis.…”

“…; Jansen et al. ; Schelvergem et al. ) and in two of four cases treated with plasma exchange (Jaben et al.…”

“…() reported that vitrectomy and silicon oil restored serous retinal detachment but did not improve VA. Intravitreal anti‐VEGF (Besirli & Comer ), systemic carbonic anhydrase inhibitor (Jansen et al. ), intraocular Methotrexate (Jansen et al. ) and intravenous immunoglobulin (Navajas et al.…”

Autoimmunity in visual loss

“…OCT shows subretinal fluid, hyperreflective spots, and an irregular thickened RPE. At the level of the RPE, en face OCT shows dark spots which correspond to hyperfluorescence spots on the blue-light autofluorescence (Jansen et al, 2015). The visual symptoms can precede discovery of the primary tumor.…”

“…Miles et al (2012) suggested the presence of an antibody that induced melanocyte proliferation. This syndrome, now also called bilateral diffuse uveal melanocytic proliferation, responds to plasma exchange (Miles et al, 2012;Jansen et al, 2015), but the cause is unknown.…”