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Ewing Sarcoma Developed at the Site of Previous Mast Cell Proliferation

dc.contributor.authorRanchor, Ridhi
dc.contributor.authorMagalhães, Manuel
dc.contributor.authorRosendo, Eugénia
dc.contributor.authorCoelho, André
dc.contributor.authorCardoso, Pedro
dc.date.accessioned2024-06-18T12:47:21Z
dc.date.available2024-06-18T12:47:21Z
dc.date.issued2023-12
dc.description.abstractKIT gene mutations in Ewing sarcomas are rare; however, they are much more frequent in other neoplasms, namely mastocytosis. We describe a case of an adult male with a one-year duration of recurrent episodes of pain, swelling, and redness on the proximal phalanx of the third finger of his right hand. A core biopsy suggested a possible mastocytosis. After four years of recurrent episodes and worsening symptoms, an incisional biopsy revealed an Ewing sarcoma with a KIT gene mutation (M541L, on exon 10). KIT gene mutations with gain-of-function were identified in 2.6% of Ewing sarcomas. In this case, the detection of a KIT mutation in an Ewing sarcoma developed at the site of previous mast cell proliferation raises the hypothesis of a possible sarcomatous evolution of the original lesion. To the best of our knowledge, similar cases are not described in the current literature. This is also the first report describing the KIT M541L mutation (exon 10) in Ewing sarcomapt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationRanchor R, Magalhães M, Rosendo E, Coelho A, Cardoso P. Ewing Sarcoma Developed at the Site of Previous Mast Cell Proliferation. Cureus. 2023;15(12):e50537. doi:10.7759/cureus.50537pt_PT
dc.identifier.doi10.7759/cureus.50537pt_PT
dc.identifier.issn2168-8184
dc.identifier.urihttp://hdl.handle.net/10400.16/2972
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherCureus, Inc.pt_PT
dc.relation.publisherversionhttps://www.cureus.com/articles/214152-ewing-sarcoma-developed-at-the-site-of-previous-mast-cell-proliferation#!/pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectcd117pt_PT
dc.subjectewing sarcomapt_PT
dc.subjectkit gene mutationpt_PT
dc.subjectmast cell proliferationpt_PT
dc.subjectmastocytosispt_PT
dc.subjectsarcomatous evolutionpt_PT
dc.titleEwing Sarcoma Developed at the Site of Previous Mast Cell Proliferationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceUnited States of Americapt_PT
oaire.citation.issue12pt_PT
oaire.citation.startPagee50537pt_PT
oaire.citation.titleCureuspt_PT
oaire.citation.volume15pt_PT
person.familyNameCardoso
person.givenNamePedro
person.identifier.ciencia-id9E15-80CD-3DB9
person.identifier.orcid0000-0002-5892-9424
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication476ed503-c5f5-4114-86b1-a8e107d2f7bd
relation.isAuthorOfPublication.latestForDiscovery476ed503-c5f5-4114-86b1-a8e107d2f7bd

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