Focusing on Metastasis in Ocular Melanoma

BAP1 mutations were associated with aggressive, metastatic ocular melanomas.

Uveal or ocular melanoma (OM), the most common primary malignancy of the eye, is often associated with lethal metastasis. Recently, oncogenic mutations in GNAQ and GNA11 were identified in OM, but these mutations were not strongly associated with outcome (see JW Dermatol Nov 17 2010). The class-2 OM subgroup appears to harbor monosomy (1 copy) for chromosome 3 and correlates significantly with metastasis. Seeking other genetic lesions in OM, particularly those that could promote metastasis, investigators performed exome capture followed by massively parallel sequencing of two class-2 tumors monosomic for chromosome 3 and of normal DNA from peripheral blood lymphocytes.

Both tumors contained inactivating mutations in BAP1, located at chromoso…

Reviewing Author

Hensin Tsao, MD, PhD

Disclosures

Consultant / advisory board Lubax; WorldCare Clinical

EquityLubax

Grant / Research support NIH; Department of Defense; American Skin Association; Piramal

Editorial boardsBritish Journal of Dermatology; Journal of the American Academy of Dermatology; Journal of Investigative Dermatology

Leadership positions in professional societies American Academy of Dermatology (Chair, Skin Cancer and Melanoma Committee); American Board of Dermatology (Director)