Case report: differential genomics and evolution of a meningeal melanoma treated with ipilimumab and nivolumab

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dc.contributor.authorBurgos, Remberto
dc.contributor.authorSantoyo, Nicolas
dc.contributor.authorRuíz-Patiño, Alejandro
dc.contributor.authorCure-Casilimas, Juanita
dc.contributor.authorRojas, Leonardo
dc.contributor.authorRicaurte, Luisa María
dc.contributor.authorMuñoz, Álvaro
dc.contributor.authorOrdoñez, Camila
dc.contributor.authorSotelo, Carolina
dc.contributor.authorRodríguez, July
dc.contributor.orcidCardona, Andrés Felipe [https://orcid.org/0000-0003-3525-4126]
dc.contributor.orcidGarcia-Robledo, Juan Esteban [https://orcid.org/0000-0003-2912-152X]
dc.date.accessioned2022-02-09T17:58:53Z
dc.date.available2022-02-09T17:58:53Z
dc.date.issued2022-01-05
dc.description.abstractPrimary melanocytic tumors of the CNS are extremely rare conditions, encompassing different disease processes including meningeal melanoma and meningeal melanocytosis. Its incidence range between 3-5%, with approximately 0.005 cases per 100,000 people. Tumor biological behavior is commonly aggressive, with poor prognosis and very low survivability, and a high recurrence rate, even after disease remission with multimodal treatments. Specific genetic alterations involving gene transcription, alternative splicing, RNA translation, and cell proliferation are usually seen, affecting genes like BRAF, TERT, GNAQ, SF3B1, and EIF1AX. Here we present an interesting case of a 59-year-old male presenting with neurologic symptoms and a further confirmed diagnosis of primary meningeal melanoma. Multiple therapy lines were used, including radiosurgery, immunotherapy, and chemotherapy. The patient developed two relapses and an evolving genetic makeup that confirmed the disease’s clonal origin. We also provide a review of the literature on the genetic basis of primary melanocytic tumors of the CNS.spa
dc.description.abstractenglishPrimary melanocytic tumors of the CNS are extremely rare conditions, encompassing different disease processes including meningeal melanoma and meningeal melanocytosis. Its incidence range between 3-5%, with approximately 0.005 cases per 100,000 people. Tumor biological behavior is commonly aggressive, with poor prognosis and very low survivability, and a high recurrence rate, even after disease remission with multimodal treatments. Specific genetic alterations involving gene transcription, alternative splicing, RNA translation, and cell proliferation are usually seen, affecting genes like BRAF, TERT, GNAQ, SF3B1, and EIF1AX. Here we present an interesting case of a 59-year-old male presenting with neurologic symptoms and a further confirmed diagnosis of primary meningeal melanoma. Multiple therapy lines were used, including radiosurgery, immunotherapy, and chemotherapy. The patient developed two relapses and an evolving genetic makeup that confirmed the disease’s clonal origin. We also provide a review of the literature on the genetic basis of primary melanocytic tumors of the CNS.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.3389/fonc.2021.691017
dc.identifier.instnameinstname:Universidad El Bosquespa
dc.identifier.issn2234-943X
dc.identifier.reponamereponame:Repositorio Institucional Universidad El Bosquespa
dc.identifier.repourlrepourl:https://repositorio.unbosque.edu.co
dc.identifier.urihttps://hdl.handle.net/20.500.12495/6769
dc.language.isoeng
dc.publisherFrontiers Media S.A.spa
dc.publisher.journalFrontiers in Oncologyspa
dc.relation.ispartofseriesFrontiers in Oncology, 2234-943X, Vol11, 2022spa
dc.relation.urihttps://www.frontiersin.org/articles/10.3389/fonc.2021.691017/full
dc.rightsAtribución 4.0 Internacional*
dc.rights.accessrightshttps://purl.org/coar/access_right/c_abf2
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.accessrightsAcceso abierto
dc.rights.localAcceso abiertospa
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/*
dc.subjectMelanomaspa
dc.subjectRadiocirugíaspa
dc.subjectInmunoterapiaspa
dc.subjectGenómicaspa
dc.subjectTumor melanocítico meníngeospa
dc.subject.keywordsmelanomaspa
dc.subject.keywordsradiosurgeryspa
dc.subject.keywordsimmunotherapyspa
dc.subject.keywordsgenomicsspa
dc.subject.keywordsGNAQspa
dc.subject.keywordsTERTspa
dc.subject.keywordsmeningeal melanocytic tumorspa
dc.titleCase report: differential genomics and evolution of a meningeal melanoma treated with ipilimumab and nivolumabspa
dc.title.translatedCase report: differential genomics and evolution of a meningeal melanoma treated with ipilimumab and nivolumabspa
dc.type.coarhttps://purl.org/coar/resource_type/c_6501
dc.type.coarversionhttps://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.driverinfo:eu-repo/semantics/article
dc.type.hasversioninfo:eu-repo/semantics/publishedVersion
dc.type.localArtículo de revista

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