{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T10:55:26Z","timestamp":1789383326063,"version":"build-2803163510"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,6,3]],"date-time":"2020-06-03T00:00:00Z","timestamp":1591142400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,6,3]],"date-time":"2020-06-03T00:00:00Z","timestamp":1591142400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100003621","name":"Ministry of Science, ICT and Future Planning","doi-asserted-by":"crossref","award":["NRF-2018R1A4A1022513"],"award-info":[{"award-number":["NRF-2018R1A4A1022513"]}],"id":[{"id":"10.13039\/501100003621","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Cancer"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Trichilemmal 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Data 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      DNA was extracted from the FFPE tissue of four patients (50% female; mean age, 51.5\u2009years) diagnosed with TC for analysis. The tumor was located in the head and neck of three patients and in the shoulder of one patient.\n                      <jats:italic>TP53<\/jats:italic>\n                      mutations (p.Arg213*, p.Arg249Trp, and p.Arg248Gln) were found in three patients. Fusions previously identified in melanoma were detected in two patients (\n                      <jats:italic>TACC3-FGFR3<\/jats:italic>\n                      and\n                      <jats:italic>ROS1-GOPC<\/jats:italic>\n                      fusions). Other mutations found included NF1-truncating mutation (Arg1362*),\n                      <jats:italic>NRAS<\/jats:italic>\n                      mutation (p.Gln61Lys),\n                      <jats:italic>TOP1<\/jats:italic>\n                      amplification, and\n                      <jats:italic>PTEN<\/jats:italic>\n                      deletion. Overall, genetic changes found in TC resemble that of other skin cancers, suggesting similar pathogenesis. All patients with\n                      <jats:italic>TP53<\/jats:italic>\n                      mutations had aggressive clinical course, two who died (OS 93 and 36\u2009months), and one who experienced recurrent relapse.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>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. Genetic alterations identified may further suggest the potential treatment options of TC.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12885-020-07009-7","type":"journal-article","created":{"date-parts":[[2020,6,3]],"date-time":"2020-06-03T10:51:45Z","timestamp":1591181505000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["The molecular pathogenesis of Trichilemmal carcinoma"],"prefix":"10.1186","volume":"20","author":[{"given":"Jeong Hyun","family":"Ha","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheol","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyu Sang","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang-sik","family":"Pak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Choong-Hyun","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8926-8067","authenticated-orcid":false,"given":"Youngil","family":"Koh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hak","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,6,3]]},"reference":[{"key":"7009_CR1","first-page":"711","volume":"40","author":"MS Hamman","year":"2014","unstructured":"Hamman MS, Brian Jiang SI. 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