The Molecular Pathogenesis of Trichilemmal Carcinoma

The study investigated the genetic abnormalities in trichilemmal carcinoma (TC), a rare hair follicle tumor, by analyzing DNA from four patients. It identified TP53 mutations in three patients, which were linked to aggressive clinical outcomes, including two deaths and one recurrent relapse. Other genetic alterations included NF1-truncating mutation, NRAS mutation, TOP1 amplification, and PTEN deletion. These genetic changes in TC resembled those in other skin cancers, suggesting a similar pathogenesis. The findings provided insights into the molecular pathogenesis of TC and suggested potential treatment options, despite the study's limitations such as small sample size and retrospective design.