Skin metastases in metastatic uveal melanoma: GNAQ / GNA11 mutational analysis as a valuable tool

摘要

Background Uveal melanomas represent 3·1% of all melanomas, with a high potential of metastatic disease of up to 50%, where the median survival time is 6 months. Though liver metastases dominate as the primary site for metastasis, the existence of primary skin metastases is still under discussion but has been reported in only a few studies. Objectives We present two cases in which patients with a known history of uveal melanoma developed melanoma skin metastases. Methods Mutational analysis was performed to clarify the origin of the metastases (uvea or skin). ResultsThe analyses revealed GNA11 mutations, which are typical for uveal melanoma. These cases strongly suggest the skin to be the primary site of uveal melanoma. Conclusions Knowledge about the mutational status of uveal melanomas opens the opportunity for future targeted therapies that directly interact with the mutation and its activated signal cascades. First trials in uveal melanoma have shown promising results with MEK inhibitors. What's already known about this topic? It remains unclear whether primary skin metastases can appear in metastatic uveal melanoma, and this is still under discussion among experts. What does this study add? Our analysis of GNA11 mutations in skin metastases of patients with a history of uveal melanoma and no other sign of metastasis showed that the skin can be a primary site for metastasis in uveal melanoma. Mutational analysis can help to clarify the origin of a metastasis and might lead to future targeted therapies.