REGENTS OF THE UNIVERSITY OF CALIFORNIA

A particular area of interest is the genetics of acral and mucosal melanomas. These melanomas arise in sun-protected sites and typically do not harbor a large number of ultraviolet light induced mutations but instead have highly rearranged genomes with many amplifications and deletions. Our group has developed new methodologies for genomically profiling small archival tissue samples and used this technique to identify SPRED1 as a tumor suppressor in mucosal melanoma. In a publication in Science, we demonstrated that loss of SPRED1 cooperates with KIT mutation and that dual inhibition of KIT and MEK is synergistic against KIT mutant melanomas with SPRED1 loss. These findings are currently being translated to the clinic through an investigator-initated clinical trial in collaboration with UCSF melanoma oncology.