Genomic Evidence for Imiquimod-Mediated Clearance of Mutated Skin in Xeroderma Pigmentosum

We further characterized mutational signatures, showing persistence of oxidative damage–associated patterns in XP-V patients. Importantly, no tumors developed in treated areas during 24 months of follow-up.

To our knowledge, this is the first in vivo human study to evaluate the genomic impact of imiquimod using whole-exome sequencing and mutational signature analysis. These findings provide novel molecular insight into the effects of field-directed therapy and contribute to the understanding of cutaneous field cancerization in high-risk populations.