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In primary central nervous system (CNS) melanomas associated with nevus of Ota, somatic mutations most commonly occur at the Q209 and R183 residues of <jats:italic>GNAQ<\/jats:italic> and likely induce tumorigenesis through upregulation of the MAP kinase pathway. This case underscores the importance of elucidating neurologic symptoms early in patients with nevus of Ota, as a delayed presentation of CNS melanoma could portend a devastating outcome.<\/jats:p>","DOI":"10.1111\/pde.14501","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T00:28:38Z","timestamp":1610670518000},"page":"497-499","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Fatal <i>GNAQ<\/i>\u2010mutated CNS melanoma in an adolescent with nevus of Ota"],"prefix":"10.1111","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7089-2567","authenticated-orcid":false,"given":"Andrew R.","family":"Blundell","sequence":"first","affiliation":[{"name":"Department of Dermatology Massachusetts General Hospital Boston MA USA"},{"name":"San Juan Bautista School of Medicine Caguas Puerto Rico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4370-7300","authenticated-orcid":false,"given":"Danna","family":"Moustafa","sequence":"additional","affiliation":[{"name":"Department of Dermatology Massachusetts General Hospital Boston MA USA"},{"name":"Harvard Medical School Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wesley R.","family":"Samore","sequence":"additional","affiliation":[{"name":"Department of Pathology Advocate Christ Medical Center Chicago IL USA"},{"name":"Department of Pathology Massachusetts General Hospital Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0862-3339","authenticated-orcid":false,"given":"Elena B.","family":"Hawryluk","sequence":"additional","affiliation":[{"name":"Department of Dermatology Massachusetts General Hospital Boston MA USA"},{"name":"Harvard Medical School Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,9]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(98)70477-3"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000495508"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1000584"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1213507"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12482"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14501","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14501","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14501","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T19:29:40Z","timestamp":1692300580000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14501"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,9]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1111\/pde.14501"],"URL":"https:\/\/doi.org\/10.1111\/pde.14501","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,9]]},"assertion":[{"value":"2021-01-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}