{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:37:41Z","timestamp":1761824261997,"version":"3.37.3"},"reference-count":23,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2020,9,24]],"date-time":"2020-09-24T00:00:00Z","timestamp":1600905600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100003329","name":"Ministerio de Econom\u00eda y Competitividad","doi-asserted-by":"publisher","award":["FIS PI14\/01669"],"award-info":[{"award-number":["FIS PI14\/01669"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Conselleria d\u2019Educaci\u00f3, Investigaci\u00f3, Cultura i Esport from Generalitat Valenciana","award":["GV\/2018\/130"],"award-info":[{"award-number":["GV\/2018\/130"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Primary meningeal melanocytomas are rare tumors of the central nervous system. Although they are considered benign neoplasms, some reports describe recurrent rates up to 45%. Little is known about their genetic and epigenetic landscape because of their infrequency. Even less has been described about markers with prognostic value. Here we describe a patient who developed a primary meningeal melanocytoma, suffered 3 recurrences in a period of 6\u2009years and died of the tumor. The genetic and epigenetic changes explored confirmed GNAQ mutation as an initiating event. We found an epigenetic alteration of GSTP1, a feature that has recently been described in meningiomas, from the beginning of the disease. In addition, there was loss of heterozygosity in BRCA1 beginning in the second recurrence that was linked to an increase in the proliferation index; this suggested a progression pathway similar to the one described in uveal melanomas. These findings underscore the necessity of further research focused on these tumors.<\/jats:p>","DOI":"10.1093\/jnen\/nlaa089","type":"journal-article","created":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T01:25:39Z","timestamp":1600997139000},"page":"1233-1238","source":"Crossref","is-referenced-by-count":4,"title":["Identification of a Novel <i>BRCA1<\/i> Alteration in Recurrent Melanocytoma Resulting in Increased Proliferation"],"prefix":"10.1093","volume":"79","author":[{"given":"Teresa","family":"San-Miguel","sequence":"first","affiliation":[{"name":"Department of Pathology, Faculty of Medicine and Odontology, Universitat de Val\u00e8ncia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lara","family":"Navarro","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine and Odontology, Universitat de Val\u00e8ncia"},{"name":"INCLIVA Research Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz","family":"S\u00e1nchez-Sendra","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine and Odontology, Universitat de Val\u00e8ncia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"Meg\u00edas","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine and Odontology, Universitat de Val\u00e8ncia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisandra","family":"Mu\u00f1oz-Hidalgo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuria","family":"Santonja","sequence":"additional","affiliation":[{"name":"INCLIVA Research Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Concha","family":"L\u00f3pez-Gin\u00e9s","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine and Odontology, Universitat de Val\u00e8ncia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Cerd\u00e1-Nicolas","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine and Odontology, Universitat de Val\u00e8ncia"},{"name":"INCLIVA Research Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,9,24]]},"reference":[{"key":"2024032523353152500_nlaa089-B1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1111\/bpa.12241","article-title":"Primary melanocytic tumors of the central nervous system: A review with focus on molecular aspects","volume":"25","author":"K\u00fcsters-Vandevelde","year":"2015","journal-title":"Brain Pathol"},{"key":"2024032523353152500_nlaa089-B2","first-page":"266","volume-title":"WHO Classification of Tumours of the Central Nervous System","author":"Brat","year":"2016","edition":"4th 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