[Metastatic basal cell carcinoma with a SMO gene mutation. A case report]. / Metastaticheskaya forma bazal'no-kletochnoi kartsinomy s mutatsiei v gene SMO. Opisanie nablyudeniya.

The authors describe a clinical case of a patient with metastatic basal cell carcinoma and secondary resistance to vismodegib. A SMO G416E mutation of unknown clinical significance was found in the gene encoding the transmembrane receptor protein Smoothened (SMO) protein, which suggests a defect in the Sonic Hedgehog (SH) pathway and may cause tumor resistance to the prescribed drug. Comprehensive genomic profiling and in silico analysis have been used to diagnose the tumor.