Case of Metastatic Uveal Melanoma reported in NEJM

Dr Lesley Everett and Dr Thomas Copperman at UCSF Medical Center, San Francisco, CA have reported a case of Metastatic Uveal Melanoma. The case has appeared in the New England Journal of Medicine.

Uveal melanoma represents ∼85% of all ocular melanomas and up to 50% of patients develop metastatic disease. Metastases are most frequently localised to the liver and, a few patients are candidates for potentially curative surgery, this is associated with a poor prognosis. There is currently little published evidence for the optimal management and treatment of metastatic uveal melanoma and the lack of effective therapies in this setting has led to the widespread use of systemic treatments for patients with cutaneous melanoma. Uveal and cutaneous melanomas are intrinsically different diseases and so dedicated management strategies and therapies for uveal melanoma are much needed.

According to history, a 59-year-old woman presented to the emergency department with a 4-day history of inflammation and pain in the right eye. She had been blind in the eye for several years before presentation. The physical examination showed proptosis of the right eye, with periorbital inflammation, ophthalmoplegia, and a right relative afferent pupillary defect. Magnetic resonance imaging revealed a right orbital mass measuring 2.8 cm by 2.5 cm by 2.3 cm with intraocular and extraocular components.

The patient’s levels of alanine aminotransferase and aspartate aminotransferase were normal, but there were elevations in the alkaline phosphatase level (245 U per litre; reference range, 31 to 95) and the γ-glutamyltransferase level (225 U per litre; reference range, 7 to 37). Abdominal and thoracic imaging showed numerous hepatic masses, abdominal and thoracic lymphadenopathy, and vertebral sclerotic osseous disease, findings that were consistent with widely metastatic disease.

The right eye was enucleated for palliative relief and to obtain tissue for diagnosis. Immunohistochemical evaluation supported the diagnosis of uveal melanoma. The patient was treated with ipilimumab and nivolumab, but she died from progressive disease 2 months after presentation.