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

Br J Dermatol. 2018 Sep;179(3):747-749. doi: 10.1111/bjd.16607. Epub 2018 Jun 26.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Antibodies, Monoclonal, Humanized / administration & dosage*
  • Basal Cell Nevus Syndrome / drug therapy*
  • Basal Cell Nevus Syndrome / genetics
  • Basal Cell Nevus Syndrome / immunology
  • Humans
  • Infusions, Intravenous
  • Male
  • Mutation
  • Off-Label Use
  • Programmed Cell Death 1 Receptor / antagonists & inhibitors*
  • Repressor Proteins / genetics*
  • Skin Neoplasms / drug therapy*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / immunology
  • Treatment Outcome

Substances

  • Antibodies, Monoclonal, Humanized
  • PDCD1 protein, human
  • Programmed Cell Death 1 Receptor
  • Repressor Proteins
  • SUFU protein, human
  • pembrolizumab