Журнал клинической и экспериментальной офтальмологии
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ISSN: 2155-9570
ISSN: 2155-9570
Milena Pahlitzsch, Eckart Bertelmann and Christian Mai
Background: BRAF is a proto-oncogene that encodes the protein B-Raf. This is a serine/threonine kinase and part of the mitogen-activated protein kinase (MAPK) pathway. Vemurafenib is a potent inhibitor of the mutant BRAF. It is approved for cutaneous melanoma.
Patient/methods: A 80-year-old woman presented with irregular pigmented, hyperaemic upper and lower eye lid changes and alterations in the temporal conjunctiva of the right eye 03/2011. A conjunctival melanoma was detected with expression of BRAF Mutation on exon 15 (by PCR). For causal therapy the only primary surgical option was offered: exenteration of the right orbital. The patient refused this surgical intervention. To stabilize and prevent progression of the lesions, treatment with a BRAF inhibitor (vemurafenib) has been started over 16 month period of time.
Results: After successful tumour response and decreasing size complete resection was performed 08/2013. The therapy was terminated due to a controlled tumour situation and progressive deterioration of general condition 09/2013. The progression of conjunctival melanoma could be prevented by this therapy by now.
Discussion: To the best of our knowledge it is the first case to show the permanent recovery of a conjunctival melanoma after BRAF inhibitor therapy. Over the course of time there was a significant reduction of the patient’s general condition including weight loss, vomiting, headaches. These side effects should be carefully evaluated in further studies.