The Molecular Pathogenesis of Trichilemmal Carcinoma

Trichilemmal carcinoma (TC) is an extremely rare hair follicle tumor with outer root sheath origin. We aimed to explore the genetic abnormalities involved in TC to gain insight into its molecular pathogenesis. Data from patients diagnosed with TC at Seoul National University Hospital within a 12-year period were retrospectively reviewed. Genomic DNA isolated from a formalin-fixed paraffin-embedded (FFPE) tumor tissue block was sequenced and explored for a panel of cancer genes. We reported the genomic variations found in TC, which may give insight into the molecular pathogenesis. Overall, genetic changes found in TC resembled that of other skin cancers, suggesting similar pathogenesis. TP53 mutations was were identified in patients who had an aggressive clinical course. These may further suggest the potential treatment options of TC.