Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression

Endometrial cancer; Clonal evolution; Mutation

Detalles Bibliográficos
Autores: Mota Jimenez, Alba, Oltra, Sara S, Selenica, Pier, Lopez Gil, Carlos, Rojo Sebastian, Alejandro, Colas Ortega, Eva, Gil Moreno, Antonio, Moiola, Cristian Pablo, Casas-Arozamena, Carlos
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:11351/8023
Acceso en línea:https://hdl.handle.net/11351/8023
Access Level:acceso abierto
Palabra clave:Endometri - Càncer - Aspectes genètics
DISEASES::Neoplasms::Neoplasms by Site::Urogenital Neoplasms::Genital Neoplasms, Female::Uterine Neoplasms::Endometrial Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Genetic Heterogeneity
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias urogenitales::neoplasias de los genitales femeninos::neoplasias uterinas::neoplasias endometriales
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::heterogeneidad genética
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oai_identifier_str oai:recercat.cat:11351/8023
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression
title Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression
spellingShingle Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression
Mota Jimenez, Alba
Endometri - Càncer - Aspectes genètics
DISEASES::Neoplasms::Neoplasms by Site::Urogenital Neoplasms::Genital Neoplasms, Female::Uterine Neoplasms::Endometrial Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Genetic Heterogeneity
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias urogenitales::neoplasias de los genitales femeninos::neoplasias uterinas::neoplasias endometriales
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::heterogeneidad genética
title_short Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression
title_full Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression
title_fullStr Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression
title_full_unstemmed Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression
title_sort Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression
dc.creator.none.fl_str_mv Mota Jimenez, Alba
Oltra, Sara S
Selenica, Pier
Lopez Gil, Carlos
Rojo Sebastian, Alejandro
Colas Ortega, Eva
Gil Moreno, Antonio
Moiola, Cristian Pablo
Casas-Arozamena, Carlos
author Mota Jimenez, Alba
author_facet Mota Jimenez, Alba
Oltra, Sara S
Selenica, Pier
Lopez Gil, Carlos
Rojo Sebastian, Alejandro
Colas Ortega, Eva
Gil Moreno, Antonio
Moiola, Cristian Pablo
Casas-Arozamena, Carlos
author_role author
author2 Oltra, Sara S
Selenica, Pier
Lopez Gil, Carlos
Rojo Sebastian, Alejandro
Colas Ortega, Eva
Gil Moreno, Antonio
Moiola, Cristian Pablo
Casas-Arozamena, Carlos
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[Mota A] MD Anderson International Foundation, Madrid, Spain. Biochemistry Department, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas ‘Alberto Sols’ (CSIC-UAM), IdiPaz, Madrid, Spain. [Oltra SS] MD Anderson International Foundation, Madrid, Spain. Biochemistry Department, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas ‘Alberto Sols’ (CSIC-UAM), IdiPaz, Madrid, Spain. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. [Selenica P] Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, USA. [Moiola CP, Colas E] Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. Grup de Recerca Biomèdica en Ginecologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Casas-Arozamena C] Translational Medical Oncology Group (Oncomet), Health Research Institute of Santiago de Compostela (IDIS), University Hospital of Santiago de Compostela (SERGAS), Santiago de Compostela, Spain. [López-Gil C] Grup de Recerca Biomèdica en Ginecologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Rojo-Sebastián A] Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. Grup de Recerca Biomèdica en Ginecologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. MD Anderson Cancer Center, Madrid, Spain. [Gil-Moreno A] Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. Grup de Recerca Biomèdica en Ginecologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Ginecologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Endometri - Càncer - Aspectes genètics
DISEASES::Neoplasms::Neoplasms by Site::Urogenital Neoplasms::Genital Neoplasms, Female::Uterine Neoplasms::Endometrial Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Genetic Heterogeneity
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias urogenitales::neoplasias de los genitales femeninos::neoplasias uterinas::neoplasias endometriales
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::heterogeneidad genética
topic Endometri - Càncer - Aspectes genètics
DISEASES::Neoplasms::Neoplasms by Site::Urogenital Neoplasms::Genital Neoplasms, Female::Uterine Neoplasms::Endometrial Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Genetic Heterogeneity
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias urogenitales::neoplasias de los genitales femeninos::neoplasias uterinas::neoplasias endometriales
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::heterogeneidad genética
description Endometrial cancer; Clonal evolution; Mutation
publishDate 2022
dc.date.none.fl_str_mv 2022
2022
2022
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/8023
url https://hdl.handle.net/11351/8023
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Oncogene;41
https://doi.org/10.1038/s41388-022-02221-0
dc.rights.none.fl_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springer Nature
publisher.none.fl_str_mv Springer Nature
dc.source.none.fl_str_mv Scientia
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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spelling Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progressionMota Jimenez, AlbaOltra, Sara SSelenica, PierLopez Gil, CarlosRojo Sebastian, AlejandroColas Ortega, EvaGil Moreno, AntonioMoiola, Cristian PabloCasas-Arozamena, CarlosEndometri - Càncer - Aspectes genèticsDISEASES::Neoplasms::Neoplasms by Site::Urogenital Neoplasms::Genital Neoplasms, Female::Uterine Neoplasms::Endometrial NeoplasmsOther subheadings::Other subheadings::Other subheadings::/geneticsPHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Genetic HeterogeneityENFERMEDADES::neoplasias::neoplasias por localización::neoplasias urogenitales::neoplasias de los genitales femeninos::neoplasias uterinas::neoplasias endometrialesOtros calificadores::Otros calificadores::Otros calificadores::/genéticaFENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::heterogeneidad genéticaEndometrial cancer; Clonal evolution; MutationCáncer endometrial; Evolución clonal; MutaciónCàncer d'endometri; Evolució clonal; MutacióAnalyzing different tumor regions by next generation sequencing allows the assessment of intratumor genetic heterogeneity (ITGH), a phenomenon that has been studied widely in some tumor types but has been less well explored in endometrial carcinoma (EC). In this study, we sought to characterize the spatial and temporal heterogeneity of 9 different ECs using whole-exome sequencing, and by performing targeted sequencing validation of the 42 primary tumor regions and 30 metastatic samples analyzed. In addition, copy number alterations of serous carcinomas were assessed by comparative genomic hybridization arrays. From the somatic mutations, identified by whole-exome sequencing, 532 were validated by targeted sequencing. Based on these data, the phylogenetic tree reconstructed for each case allowed us to establish the tumors’ evolution and correlate this to tumor progression, prognosis, and the presence of recurrent disease. Moreover, we studied the genetic landscape of an ambiguous EC and the molecular profile obtained was used to guide the selection of a potential personalized therapy for this patient, which was subsequently validated by preclinical testing in patient-derived xenograft models. Overall, our study reveals the impact of analyzing different tumor regions to decipher the ITGH in ECs, which could help make the best treatment decision.We thank all those at the Translational Research Laboratory of the MD Anderson Cancer Center Madrid for their invaluable help with this study. Tissue samples were obtained with the support of the MD Anderson Foundation Biobank (record number B.0000745, ISCIII National Biobank Record), the “Xarxa Catalana de Bancs de Tumors” and “Plataforma de Biobancos” ISCIII (PT13/0010/0014, B.000609). This study has been supported by the Spanish Ministry of Economy and Innovation (PID2019-104644RB-I00 (GMB), the Instituto de Salud Carlos III (ISCIII, CIBERONC, CB16/12/00295 - GMB-, CB16/12/00328 -EC, AGM- and CB16/12/00231 -XMG- [all partly supported by FEDER funds]) and by the AECC Scientific Foundation (FC_AECC PROYE19036MOR -GMB- and Coordinated groups 2018 -XMG, AGM, GMB-). SO is funded by an AECC-postdoctoral grant (2020). JSR-F and BW are funded in part by the Breast Cancer Research Foundation and in part by the NIH/NCI P50 CA247749 01 grant. Research reported in this publication was supported in part by a Cancer Center Support Grant of the NIH/NCI (Grant No. P30CA008748; MSK). We thank the Eurofins Megalab laboratory for helping us to perform the analysis of DNA HPV detection.Springer NatureInstitut Català de la Salut[Mota A] MD Anderson International Foundation, Madrid, Spain. Biochemistry Department, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas ‘Alberto Sols’ (CSIC-UAM), IdiPaz, Madrid, Spain. [Oltra SS] MD Anderson International Foundation, Madrid, Spain. Biochemistry Department, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas ‘Alberto Sols’ (CSIC-UAM), IdiPaz, Madrid, Spain. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. [Selenica P] Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, USA. [Moiola CP, Colas E] Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. Grup de Recerca Biomèdica en Ginecologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Casas-Arozamena C] Translational Medical Oncology Group (Oncomet), Health Research Institute of Santiago de Compostela (IDIS), University Hospital of Santiago de Compostela (SERGAS), Santiago de Compostela, Spain. [López-Gil C] Grup de Recerca Biomèdica en Ginecologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Rojo-Sebastián A] Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. Grup de Recerca Biomèdica en Ginecologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. MD Anderson Cancer Center, Madrid, Spain. [Gil-Moreno A] Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. Grup de Recerca Biomèdica en Ginecologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Ginecologia, Vall d’Hebron Hospital Universitari, Barcelona, SpainVall d'Hebron Barcelona Hospital Campus202220222022info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/11351/8023Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésOncogene;41https://doi.org/10.1038/s41388-022-02221-0Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/80232026-05-29T05:05:01Z
score 15,811543

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