[논문]The molecular pathogenesis of Trichilemmal carcinoma

Ha, Jeong Hyun; Lee, Cheol; Lee, Kyu Sang; Pak, Chang-sik; Sun, Choong-Hyun; Koh, Youngil; Chang, Hak

doi:10.1186/s12885-020-07009-7

[해외논문] The molecular pathogenesis of Trichilemmal carcinoma 원문보기

BMC cancer, v.20 no.1, 2020년, pp.516 -

Ha, Jeong Hyun (Department of Plastic and Reconstructive Surgery, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, Seoul, Korea) , Lee, Cheol (Department of Pathology, Seoul National University Hospital, Seoul, Korea) , Lee, Kyu Sang (Department of Pathology, Seoul National University Bundang Hospital, Gyeonggi, Korea) , Pak, Chang-sik (Department of Plastic and Reconstructive Surgery, Asan Medical Center, Seoul, Korea) , Sun, Choong-Hyun (GenomeOpinion, Seoul, Korea) , Koh, Youngil (Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea) , Chang, Hak (Department of Plastic and Reconstructive Surgery, Seoul National University College of Medicine, Seoul, Korea)

Abstract ▼ AI-Helper

BackgroundTrichilemmal carcinoma (TC) is an extremely rare hair follicle tumor. We aimed to explore the genetic abnormalities involved in TC to gain insight into its molecular pathogenesis.MethodsData from patients diagnosed with TC 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.ResultsDNA was extracted from the FFPE tissue of four patients (50% female; mean age, 51.5 years) diagnosed with TC for analysis. The tumor was located in the head and neck of three patients and in the shoulder of one patient. TP53 mutations (p.Arg213*, p.Arg249Trp, and p.Arg248Gln) were found in three patients. Fusions previously identified in melanoma were detected in two patients (TACC3-FGFR3 and ROS1-GOPC fusions). Other mutations found included NF1-truncating mutation (Arg1362*), NRAS mutation (p.Gln61Lys), TOP1 amplification, and PTEN deletion. Overall, genetic changes found in TC resemble that of other skin cancers, suggesting similar pathogenesis. All patients with TP53 mutations had aggressive clinical course, two who died (OS 93 and 36 months), and one who experienced recurrent relapse.ConclusionsWe 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. Genetic alterations identified may further suggest the potential treatment options of TC.

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