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 case of recurrent relapse. Other genetic alterations included mutations and fusions seen in other cancers, such as NF1-truncating mutation, NRAS mutation, TOP1 amplification, and PTEN deletion. These findings suggested that TC shared a similar pathogenesis with other skin cancers and provided insights into potential treatment options, despite the study's limitations of a small sample size and retrospective design.