Effective anti-programmed death-1 therapy in a SUFU-mutated patient with Gorlin-Goltz syndrome

We present the case of a 77-year-old male patient with more than 50 basal cell carcinomas on the head and upper trunk. The patient did not respond to several lines of treatment, including surgery, imiquimod, retinoids, itraconazole and therapy with the hedgehog inhibitor vismodegib. The patient responded well to off-label therapy with the anti-programmed death-1 antibody pembrolizumab after four infusions. What's already known about this topic? Hedgehog inhibitors are approved for the treatment of patients with inoperable or metastatic basal cell carcinoma. Some patients do not respond to or tolerate these agents, so new therapies are needed. What does this study add? Treatment with programmed death-1 checkpoint inhibitors may be a good therapeutic option for patients with Gorlin-Goltz syndrome and patients with metastatic basal cell carcinomas refractory to hedgehog inhibitors. Linked Comment:Haug and Schilling. Br J Dermatol 2018; 179:566-567.