Seborrheic keratosis (SK) lesions, despite harboring multiple somatic alterations in contrast to malignant tumors, appear to be genetically stable. In order to investigate and characterize the presence of recurrent mutations, however, researchers recently performed exome sequencing on DNA from 1 SK lesion and corresponding blood cells from the same patients with follow up investigation of alterations identified by exome sequencing in 24 additional lesions from as many patients. In addition to showing the most frequent SK mutations, they investigated alterations in all lesions at specific genes loci that included FGFR3, PIK3CA, HRAS, BRAF, CDKN2A, and TERT and DHPH3 promoters. Highlights include:
- The FGFR3 mutations were the most frequent, detected in 12 of 25 (48%) lesions, followed by the PIK3CA (32%), TERT promoter (24%), and DPH3 promoter mutations (24%).
- TERT promoter mutations associated with increased age and were present mainly in the lesions excised from head and neck.
Heidenreich B, Denisova E, Rachakonda S, et al. Genetic alterations in seborrheic keratosis. Oncotarget. 2017;8(22):36639-36649. doi:10.18632/oncotarget.16698.
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