{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T21:00:32Z","timestamp":1791234032702,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,4,27]],"date-time":"2021-04-27T00:00:00Z","timestamp":1619481600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["16H06279"],"award-info":[{"award-number":["16H06279"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A sebaceous nevus is a congenital skin hamartoma caused by postzygotic <jats:italic>HRAS<\/jats:italic> or <jats:italic>KRAS<\/jats:italic> mosaic mutations. With age, affected individuals may develop secondary tumors within a sebaceous nevus. RAS mutations are harbored from the onset of sebaceous nevus, and further mutations can be expected to be required in order to explain the initiation of secondary tumors. However, genetic analyses of the secondary tumors have not been conducted. Herein, we describe the rare coexistence of a poroma and a trichoblastoma arising in a sebaceous nevus. This is the first report of an investigation of multiple genes in a secondary tumor in an SN. First, <jats:italic>HRAS<\/jats:italic> c.37G&gt;C, which is the common mutation in sebaceous nevus, was detected in all three lesions (sebaceous nevus, poroma, and trichoblastoma). Next, to elucidate the potential second\u2010hit mutations in the secondary poroma and trichoblastoma, we applied a panel sequencing for skin cancers that was newly developed in our institution. Our comparison of the mutational profile of 95 skin cancer\u2010related genes in each of the three lesions newly revealed <jats:italic>TP53<\/jats:italic> p.R158P in the poroma and <jats:italic>NOTCH2<\/jats:italic> p.G329S in the trichoblastoma. <jats:italic>TP53<\/jats:italic> p.R158P has been determined as a pathogenic mutation in other tumors, and <jats:italic>NOTCH2<\/jats:italic> p.G329S was a novel mutation. We identified two novel mutations that may have contributed to the pathogenesis of the secondary tumor\u2019s development. The roles of the mutations remain unclear.<\/jats:p>","DOI":"10.1111\/1346-8138.15919","type":"journal-article","created":{"date-parts":[[2021,4,28]],"date-time":"2021-04-28T06:59:05Z","timestamp":1619593145000},"page":"1268-1272","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Genetic analyses of a secondary poroma and trichoblastoma in a <i>HRAS<\/i>\u2010mutated sebaceous nevus"],"prefix":"10.1111","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8353-036X","authenticated-orcid":false,"given":"Tomoyuki","family":"Minowa","sequence":"first","affiliation":[{"name":"Department of Dermatology Sapporo Medical University School of Medicine Sapporo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8254-2804","authenticated-orcid":false,"given":"Takafumi","family":"Kamiya","sequence":"additional","affiliation":[{"name":"Department of Dermatology Sapporo Medical University School of Medicine Sapporo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3662-0095","authenticated-orcid":false,"given":"Tokimasa","family":"Hida","sequence":"additional","affiliation":[{"name":"Department of Dermatology Sapporo Medical University School of Medicine Sapporo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masae","family":"Okura","sequence":"additional","affiliation":[{"name":"Department of Dermatology Sapporo Medical University School of Medicine Sapporo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8734-445X","authenticated-orcid":false,"given":"Junji","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Dermatology Sapporo Medical University School of Medicine Sapporo 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Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9428-9543","authenticated-orcid":false,"given":"Takashi","family":"Tokino","sequence":"additional","affiliation":[{"name":"Department of Medical Genome Sciences Research Institute for Frontier Medicine Sapporo Medical University School of Medicine Sapporo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5391-3397","authenticated-orcid":false,"given":"Hisashi","family":"Uhara","sequence":"additional","affiliation":[{"name":"Department of Dermatology Sapporo Medical University School of Medicine Sapporo 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