1. Molecular Features of Metaplastic Breast Carcinoma: An Infrequent Subtype of Triple Negative Breast Carcinoma
- Author
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Maria Luisa Palacios-Berraquero, Silvia González-Martínez, Irene Carretero-Barrio, Javier Cortes, Jose Perez-Garcia, Belén Pérez-Mies, José Palacios, Institut Català de la Salut, [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, and Vall d'Hebron Barcelona Hospital Campus
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0301 basic medicine ,MBC ,Cancer Research ,Review ,Biology ,lcsh:RC254-282 ,Pathogenesis ,Transcriptome ,03 medical and health sciences ,0302 clinical medicine ,Mama - Càncer ,CDKN2A ,CDKN2B ,polycyclic compounds ,Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Carcinoma::Carcinoma, Squamous Cell [DISEASES] ,Molecular alterations ,Metaplastic breast carcinoma ,neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::carcinoma::carcinoma de células escamosas [ENFERMEDADES] ,molecular alterations ,Copy-number variation ,skin and connective tissue diseases ,neoplasms ,metaplastic breast carcinoma ,PI3K/AKT/mTOR pathway ,Resistència als medicaments ,treatment ,Metaplastic Breast Carcinoma ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Prognosis ,bacterial infections and mycoses ,neoplasias::neoplasias por localización::neoplasias de la mama::neoplasias de mama triple negativos [ENFERMEDADES] ,Treatment ,030104 developmental biology ,Oncology ,030220 oncology & carcinogenesis ,Neoplasms::Neoplasms by Site::Breast Neoplasms::Triple Negative Breast Neoplasms [DISEASES] ,Cancer research ,bacteria ,Triple-Negative Breast Carcinoma ,prognosis - Abstract
Carcinoma de mama metaplàsic; Alteracions moleculars; Pronòstic Carcinoma de mama metaplásico; Alteraciones moleculares; Pronóstico Metaplastic breast carcinoma; Molecular alterations; Prognosis Metaplastic 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. This review was funded by grants from the Instituto de Salud Carlos III (ISCIII) (PI19/01331) and CIBERONC (CB16/12/00316 and CB16/12/00449), co-financed by the European Development Regional Fund. ‘A way to achieve Europe’ (FEDER), and by the Spanish Association Against Cancer Scientific Foundation (Grupos Coordinados Traslacionales aecc 2018).
- Published
- 2020
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