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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorGonzález-Martínez, Silvia
dc.contributor.authorPérez-Mies, Belén
dc.contributor.authorCarretero-Barrio, Irene
dc.contributor.authorPalacios-Berraquero, María Luisa
dc.contributor.authorPerez-Garcia, Jose Manuel
dc.contributor.authorCortés Castan, Javier
dc.date.accessioned2021-08-26T10:20:16Z
dc.date.available2021-08-26T10:20:16Z
dc.date.issued2020-07-08
dc.identifier.citationGonzález-Martínez S, Pérez-Mies B, Carretero-Barrio I, Palacios-Berraquero ML, Perez-García J, Cortés J, et al. Molecular Features of Metaplastic Breast Carcinoma: An Infrequent Subtype of Triple Negative Breast Carcinoma. Cancers (Basel). 2020 Jul 8;12(7):1832.
dc.identifier.issn2072-6694
dc.identifier.urihttp://hdl.handle.net/11351/6239
dc.descriptionMetaplastic breast carcinoma; Molecular alterations; Prognosis
dc.description.abstractMetaplastic breast carcinoma (MBC) is a heterogeneous group of infrequent invasive carcinomas that display differentiation of the neoplastic epithelium towards squamous cells and/or mesenchymal-type elements. Most MBC have a triple negative phenotype and poor prognosis. Thus, MBC have worse survival rates than other invasive breast carcinomas, including other triple negative breast carcinomas (TNBC). In this study, we reviewed the molecular features of MBC, pointing out the differences among subtypes. The most frequently mutated genes in MBC were TP53 and PIK3CA. Additionally, mutations in the other genes of the PI3K/AKT pathway indicated its importance in the pathogenesis of MBC. Regarding copy number variations (CNVs), MYC was the most frequently amplified gene, and the most frequent gene loss affected the CDKN2A/CDKN2B locus. Furthermore, the pattern of mutations and CNVs of MBC differed from those reported in other TNBC. However, the molecular profile of MBC was not homogeneous among histological subtypes, being the alterations in the PI3K pathway most frequent in spindle cell carcinomas. Transcriptomic studies have demonstrated an epithelial to mesenchymal program activation and the enrichment of stemness genes in most MBC. In addition, current studies are attempting to define the immune microenvironment of these tumors. In conclusion, due to specific molecular features, MBC have a different clinical behavior from other types of TNBC, being more resistant to standard chemotherapy. For this reason, new therapeutic approaches based on tumor molecular characteristics are needed to treat MBC.
dc.language.isoeng
dc.publisherMDPI
dc.relation.ispartofseriesCancers;12(7)
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectMama - Càncer
dc.subjectResistència als medicaments
dc.subject.meshTriple Negative Breast Neoplasms
dc.subject.meshCarcinoma, Squamous Cell
dc.titleMolecular Features of Metaplastic Breast Carcinoma: An Infrequent Subtype of Triple Negative Breast Carcinoma
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.3390/cancers12071832
dc.subject.decsneoplasias de mama triple negativos
dc.subject.decscarcinoma de células escamosas
dc.relation.publishversionhttps://www.mdpi.com/2072-6694/12/7/1832
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[González-Martínez S] Clinical Researcher, Hospital Universitario Ramón y Cajal, Madrid, Spain. [Pérez-Mies B] Pathology Department, Hospital Universitario Ramón y Cajal, Madrid, Spain. Instituto Ramón y Cajal for Health Research (IRYCIS), Madrid, Spain. CIBER-ONC, Instituto de Salud Carlos III, Madrid, Spain. Faculty of Medicine, University of Alcalá de Henares, Alcalá de Henares, Madrid, Spain. Breast Pathology Unit, Hospital Universitario Ramón y Cajal, Madrid, Spain. [Carretero-Barrio I] Pathology Department, Hospital Universitario Ramón y Cajal, Madrid, Spain. [Palacios-Berraquero ML] Hematology and Hemotherapy Department, Clínica Universidad de Navarra, Pamplona, Spain. [Perez-García J] IOB Institute of Oncology, Quironsalud Group, Hospital Quiron, Barcelona, Spain. [Cortés J] CIBER-ONC, Instituto de Salud Carlos III, Madrid, Spain. IOB Institute of Oncology, Quironsalud Group, Hospital Quiron, Barcelona, Spain. IOB Institute of Oncology, Quironsalud Group, Madrid, Spain. Medica Scientia Innovation Research, 08018 Barcelona, Spain. Medica Scientia Innovation Research, Ridgewood, USA. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain
dc.identifier.pmid32650408
dc.identifier.wos000558069400001
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/PE2017-2020/PI19%2F01331
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/PE2013-2016/CB16%2F12%2F00316
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/PE2013-2016/CB16%2F12%2F00449
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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