{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T10:53:50Z","timestamp":1778756030785,"version":"3.51.4"},"reference-count":57,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,5,3]],"date-time":"2017-05-03T00:00:00Z","timestamp":1493769600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"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"}]},{"DOI":"10.13039\/501100002701","name":"Ministry of Education","doi-asserted-by":"publisher","award":["2016R1A2B1012074"],"award-info":[{"award-number":["2016R1A2B1012074"]}],"id":[{"id":"10.13039\/501100002701","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2017,10]]},"abstract":"Abstract<\/jats:title>The proportion of acral melanoma (AM<\/jats:styled-content>) is much higher in Asian populations than in Caucasian populations. Although mutational profiles associated with AM<\/jats:styled-content> have been discovered in Caucasian populations, knowledge of its genetic alterations in Asian populations is limited. To describe the molecular nature of AM<\/jats:styled-content> in Korean patients, we performed mutational profiling of AM<\/jats:styled-content> and matched normal tissues in patients. Fifty\u2010one formalin\u2010fixed paraffin\u2010embedded AM<\/jats:styled-content> samples and 32 matched pairs from patients\u2019 saliva DNA<\/jats:styled-content> were analysed by next\u2010generation sequencing. Only mutations confirmed via digital droplet PCR<\/jats:styled-content> or in BRAF<\/jats:styled-content>, KIT<\/jats:styled-content><\/jats:italic> and NRAS<\/jats:styled-content>,<\/jats:italic> the most frequently altered cancer genes in cutaneous melanoma, were considered as positive. The relationship between mutational status and clinicopathological features were examined. Of the 47 AM<\/jats:styled-content> patients screened, alteration of BRAF<\/jats:styled-content>, NRAS<\/jats:styled-content><\/jats:italic> and KIT<\/jats:styled-content><\/jats:italic> genes was observed in 6.4%, 4.3% and 8.5%, respectively. We also tested matched normal tissues of patients to identify tumor\u2010specific mutations. Examination of the mutational profile in a cohort of 28 primary melanomas and matched normal controls found BRAF<\/jats:styled-content><\/jats:italic> mutations in two cases (7.1%), KIT<\/jats:styled-content><\/jats:italic> mutations in three cases (10.7%) and CTNNB<\/jats:styled-content>1<\/jats:italic> mutations in one case (3.6%). The BRAF<\/jats:styled-content>, NRAS<\/jats:styled-content><\/jats:italic> and KIT<\/jats:styled-content><\/jats:italic> mutation status did not correlate with clinicopathological characteristics. Our results show that KIT<\/jats:styled-content>, NRAS<\/jats:styled-content><\/jats:italic> and BRAF<\/jats:styled-content><\/jats:italic> hotspot mutations occur at a low frequency in Korean populations. We also observed a case with the CTNNB<\/jats:styled-content>1<\/jats:italic> mutation, which raises the possibility that other pathways are associated with AM<\/jats:styled-content> development.<\/jats:p>","DOI":"10.1111\/exd.13321","type":"journal-article","created":{"date-parts":[[2017,2,13]],"date-time":"2017-02-13T08:22:52Z","timestamp":1486974172000},"page":"883-888","source":"Crossref","is-referenced-by-count":28,"title":["Mutational profiling of acral melanomas in Korean populations"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3974-1290","authenticated-orcid":false,"given":"Joon Ho","family":"Shim","sequence":"first","affiliation":[{"name":"Department of Dermatology Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea"},{"name":"Samsung Genome Institute Samsung Medical Center Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun\u2010Tae","family":"Shin","sequence":"additional","affiliation":[{"name":"Samsung Genome Institute Samsung Medical Center Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiho","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Health Sciences and Technology Samsung Advanced Institute for Health Sciences and Technology Sungkyunkwan University Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji\u2010Hye","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Dermatology Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong\u2010Hee","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Dermatology Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea"},{"name":"Department of Medical Device Management & Research Samsung Advanced Institute for Health Sciences and Technology Sungkyunkwan University Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun\u2010Mo","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duk\u2010Hwan","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell Biology Samsung Biomedical Research Institute Sungkyunkwan University School of Medicine Suwon Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kee\u2010Taek","family":"Jang","sequence":"additional","affiliation":[{"name":"Department of Pathology Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong\u2010Youn","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Dermatology Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,5,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2008.609"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2012.00975.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa050092"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0463.2011.02737.x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.12572"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.338"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00008390-200412000-00016"},{"key":"e_1_2_8_9_1","doi-asserted-by":"crossref","first-page":"17","DOI":"10.47102\/annals-acadmedsg.V41N1p17","volume":"41","author":"Lee H. 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