{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T11:05:57Z","timestamp":1793963157257,"version":"4.8.0"},"reference-count":15,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,3,20]],"date-time":"2023-03-20T00:00:00Z","timestamp":1679270400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003710","name":"Korea Health Industry Development Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003710","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003725","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":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nevus sebaceous (NS) is a congenital hamartoma associated with an increased risk of secondary neoplasms in approximately 10%\u201320% of patients. However, additional genomic alterations underlying tumorigenesis in NS lesions have not been clarified. We performed whole\u2010exome sequencing of archived tumor tissues (<jats:italic>n<\/jats:italic>\u00a0=\u00a08; six basal cell carcinomas and two trichoepitheliomas) and matched germline tissues (<jats:italic>n<\/jats:italic>\u00a0=\u00a07) with from seven patients with secondary tumors arising from NS. We also analyzed NS lesions without secondary tumors (<jats:italic>n<\/jats:italic>\u00a0=\u00a08). Somatic mutations and copy number alterations (CNAs) were analyzed. We identified a median of 129 somatic mutations (corresponding to 2.6\/Mb in target regions, range 26\u2013336) for eight tumors, while a median of 118 somatic mutations (2.3\/Mb, range 1\u2013196) for eight NS lesions. Known <jats:italic>RAS<\/jats:italic> hotspot mutations were found in seven of the eight tumors (six for <jats:italic>HRAS<\/jats:italic> p.G13R and one for <jats:italic>HRAS<\/jats:italic> p.Q61R) and in six of the eight NS lesions (four for <jats:italic>HRAS<\/jats:italic> p.G13R, one for <jats:italic>KRAS<\/jats:italic> p.G12C, and one <jats:italic>KRAS<\/jats:italic> p.G12D). Except <jats:italic>RAS<\/jats:italic> mutations, several putative driver mutations were detected in tumors: <jats:italic>TP53<\/jats:italic> p.F134L\/p.R213*, <jats:italic>MYCN<\/jats:italic> p.P59L, <jats:italic>OR2Z1<\/jats:italic> p.P167S, <jats:italic>PTPN14<\/jats:italic> p.Q768*, and <jats:italic>SMO<\/jats:italic> p.W535L. As for CNAs, two tumors harbored copy\u2010loss in regions encompassing <jats:italic>PTCH1<\/jats:italic> gene. However, eight NS lesions did not harbor both putative driver mutations and CNAs. In conclusion, our study revealed that secondary tumors arising from NS harbor known <jats:italic>RAS<\/jats:italic> hotspot mutations and additional genomic alterations, including putative driver mutations and <jats:italic>PTCH1<\/jats:italic> copy\u2010loss. These results could help to define the high\u2010risk group for tumor development in patients with NS and provide evidence for prophylactic resection.<\/jats:p>","DOI":"10.1111\/1346-8138.16784","type":"journal-article","created":{"date-parts":[[2023,3,20]],"date-time":"2023-03-20T08:32:06Z","timestamp":1679301126000},"page":"1072-1075","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Whole\u2010exome sequencing of secondary tumors arising from nevus sebaceous revealed additional genomic alterations besides <i>RAS<\/i> mutations"],"prefix":"10.1111","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1660-010X","authenticated-orcid":false,"given":"Yoon\u2010Seob","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Dermatology, Bucheon St. Mary's Hospital, College of Medicine The Catholic University of Korea  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9727-5566","authenticated-orcid":false,"given":"Gyeong Sin","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Hospital Pathology, Seoul St. Mary's Hospital, College of Medicine The Catholic University of Korea  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6943-5948","authenticated-orcid":false,"given":"Yeun\u2010Jun","family":"Chung","sequence":"additional","affiliation":[{"name":"Precision Medicine Research Center\/IRCGP, College of Medicine The Catholic University of Korea  Seoul Republic of Korea"},{"name":"Department of Microbiology, College of Medicine The Catholic University of Korea  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3671-502X","authenticated-orcid":false,"given":"Ji Hyun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Seoul St. Mary's Hospital The Catholic University of Korea  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2013.10.004"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-3083.2002.00543.x"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001665-200309000-00010"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.377"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1109381"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.379"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2316"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.13758"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.15919"},{"key":"e_1_2_10_11_1","volume-title":"GATK, and WDL in Terra","author":"Van der Auwera 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