{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T14:09:35Z","timestamp":1761919775871},"reference-count":48,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,2,21]],"date-time":"2014-02-21T00:00:00Z","timestamp":1392940800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We examined nevi and melanomas in 10 xeroderma pigmentosum (<jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>) patients with defective <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> repair. The lesions had a lentiginous appearance with markedly increased numbers of melanocytes. Using laser capture microdissection, we performed <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequencing of 18 benign and atypical nevi and 75 melanomas (melanoma in situ and invasive melanomas). The nevi had a similar high frequency of <jats:italic><jats:styled-content style=\"fixed-case\">PTEN<\/jats:styled-content><\/jats:italic> mutations as melanomas [61% (11\/18) versus 53% (39\/73)]. Both had a very high proportion of <jats:styled-content style=\"fixed-case\">UV<\/jats:styled-content>\u2010type mutations (occurring at adjacent pyrimidines) [91% (10\/11) versus 92% (36\/39)]. In contrast to melanomas in the general population, the frequency of <jats:italic><jats:styled-content style=\"fixed-case\">BRAF<\/jats:styled-content><\/jats:italic> mutations (11%, 7\/61), <jats:italic><jats:styled-content style=\"fixed-case\">NRAS<\/jats:styled-content><\/jats:italic> mutations (21%, 13\/62), and <jats:italic><jats:styled-content style=\"fixed-case\">KIT<\/jats:styled-content><\/jats:italic> mutations (21%, 6\/28) in <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> melanomas was lower than for <jats:italic><jats:styled-content style=\"fixed-case\">PTEN<\/jats:styled-content><\/jats:italic>. Phospho\u2010S6 immunostaining indicated activation of the m<jats:styled-content style=\"fixed-case\">TOR<\/jats:styled-content> pathway in the atypical nevi and melanomas. Thus, the clinical and histological appearances and the molecular pathology of these <jats:styled-content style=\"fixed-case\">UV<\/jats:styled-content>\u2010related <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> nevi and melanomas were different from nevi and melanomas in the general population.<\/jats:p>","DOI":"10.1111\/pcmr.12226","type":"journal-article","created":{"date-parts":[[2014,1,31]],"date-time":"2014-01-31T17:20:34Z","timestamp":1391188834000},"page":"454-464","source":"Crossref","is-referenced-by-count":39,"title":["High frequency of <scp>PTEN<\/scp> mutations in nevi and melanomas from xeroderma pigmentosum patients"],"prefix":"10.1111","volume":"27","author":[{"given":"Taro","family":"Masaki","sequence":"first","affiliation":[{"name":"Dermatology Branch Center for Cancer Research National Cancer Institute Bethesda MD USA"},{"name":"Division of Dermatology Graduate School of Medicine Kobe University Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun","family":"Wang","sequence":"additional","affiliation":[{"name":"Dermatology Branch Center for Cancer Research National Cancer Institute Bethesda MD USA"},{"name":"Department of Dermatology Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John J.","family":"DiGiovanna","sequence":"additional","affiliation":[{"name":"Dermatology Branch Center for Cancer Research National Cancer Institute Bethesda MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sikandar G.","family":"Khan","sequence":"additional","affiliation":[{"name":"Dermatology Branch Center for Cancer Research National Cancer Institute Bethesda MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Raffeld","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology Center for Cancer Research National Cancer Institute Bethesda MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Senda","family":"Beltaifa","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology Center for Cancer Research National Cancer Institute Bethesda MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas J.","family":"Hornyak","sequence":"additional","affiliation":[{"name":"Dermatology Branch Center for Cancer Research National Cancer Institute Bethesda MD USA"},{"name":"Department of Dermatology University of Maryland Medical Center Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas N.","family":"Darling","sequence":"additional","affiliation":[{"name":"Department of Dermatology Uniformed Services University Bethesda MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chyi\u2010Chia R.","family":"Lee","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology Center for Cancer Research National Cancer Institute Bethesda MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth H.","family":"Kraemer","sequence":"additional","affiliation":[{"name":"Dermatology Branch Center for Cancer Research National Cancer Institute Bethesda MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,2,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(80)80069-4"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-011-0878-0"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.556"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.12.023"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.2800"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11071"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.083022"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2011.746"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(84)80310-X"},{"key":"e_1_2_7_12_1","first-page":"2135","article-title":"Distinct sets of genetic alterations in melanoma. N.Engl","volume":"353","author":"Curtin J.A.","year":"2005","journal-title":"J. Med."},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2006.06.2984"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.356"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature00766"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2004.11.013"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1203313"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.426"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0605247103"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1304227110"},{"key":"e_1_2_7_21_1","volume-title":"SEER Cancer Statistics Review, 1975\u20132010","author":"Howlader N.","year":"2013"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.11.2611"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5701074"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1994.01690080084012"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.21.9685"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0712397105"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700632"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI69619"},{"key":"e_1_2_7_29_1","first-page":"51","article-title":"Melanoma. N.Engl","volume":"355","author":"Miller A.J.","year":"2006","journal-title":"J. Med."},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.421"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2010.00796.x"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1517\/14728222.2012.691472"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.cmr.0000222600.73179.f3"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkf493"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr337"},{"key":"e_1_2_7_36_1","unstructured":"Sanger Institute(2012).Catalogue of Somatic Mutations in Cancer.http:\/\/cancer.sanger.ac.uk\/cancergenome\/projects\/cosmic\/"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(93)70079-9"},{"key":"e_1_2_7_38_1","first-page":"1800","article-title":"Relative reciprocity of NRAS and PTEN\/MMAC1 alterations in cutaneous melanoma cell lines","volume":"60","author":"Tsao H.","year":"2000","journal-title":"Cancer Res."},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(03)02473-3"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202X.2004.22243.x"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fsigen.2011.06.002"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-06-3073"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0812401106"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/95.4.308"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.810"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2011.00880.x"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)65461-2"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2013.07.013"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.9.4216"}],"container-title":["Pigment Cell &amp; Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpcmr.12226","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.12226","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T12:21:17Z","timestamp":1695558077000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pcmr.12226"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,21]]},"references-count":48,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1111\/pcmr.12226"],"URL":"https:\/\/doi.org\/10.1111\/pcmr.12226","archive":["Portico"],"relation":{},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,21]]}}}