Seeing the Light in Ocular Melanoma

Activation of the pathway involving two similar genes appears to contribute to the development of uveal melanoma.

The genetic basis for uveal melanoma formation was unknown until a breakthrough finding documented GNAQ mutations in 40% of uveal melanomas. GNAQ encodes for the alpha subunit of a class of G proteins that affect intracellular signaling. The discovery of activating oncogenic changes in GNAQ has shed light on pathways involved in ocular melanomas and raised the possibility of novel therapeutic approaches to this treatment-resistant form of melanoma.

Now, the same investigators have sequenced exons 4 and 5 of GNAQ and GNA11 (a paralogue of GNAQ) in various types of melanocytic tumors, including uveal melanomas and blue nevi. They found inverse distribution patterns of somatic mutations. In GNA11, mutations affecting amino acid position 209 (Q2…

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)