Timing evolution of lobular breast cancer through phylogenetic analysis
Summary: Background: Late distant recurrence is a challenge for the treatment of invasive lobular carcinoma (ILC) of the breast. Despite in-depth characterisation of primary ILC, the molecular landscape of metastatic ILC is still only partially understood. Methods: We retrospectively identified 38...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-08-01
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| Series: | EBioMedicine |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352396422003504 |
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| author | Danai Fimereli David Venet Mattia Rediti Bram Boeckx Marion Maetens Samira Majjaj Ghizlane Rouas Caterina Marchio Francois Bertucci Odette Mariani Maria Capra Giuseppina Bonizzi Federica Contaldo Christine Galant Gert Van den Eynden Roberto Salgado Elia Biganzoli Anne Vincent-Salomon Giancarlo Pruneri Denis Larsimont Diether Lambrechts Christine Desmedt David N. Brown Françoise Rothé Christos Sotiriou |
| author_facet | Danai Fimereli David Venet Mattia Rediti Bram Boeckx Marion Maetens Samira Majjaj Ghizlane Rouas Caterina Marchio Francois Bertucci Odette Mariani Maria Capra Giuseppina Bonizzi Federica Contaldo Christine Galant Gert Van den Eynden Roberto Salgado Elia Biganzoli Anne Vincent-Salomon Giancarlo Pruneri Denis Larsimont Diether Lambrechts Christine Desmedt David N. Brown Françoise Rothé Christos Sotiriou |
| author_sort | Danai Fimereli |
| collection | DOAJ |
| description | Summary: Background: Late distant recurrence is a challenge for the treatment of invasive lobular carcinoma (ILC) of the breast. Despite in-depth characterisation of primary ILC, the molecular landscape of metastatic ILC is still only partially understood. Methods: We retrospectively identified 38 ILC patients from the tissue banks of six European institutions. DNA extracted from patient matched primary and metastatic FFPE tissue blocks was whole genome sequenced to compute somatic copy number aberrations. This, in turn, was used to infer the evolutionary history of these patients. Findings: The data show different metastatic seeding patterns, with both an early and late divergence of the metastatic lineage observed in ILC. Additionally, cascading dissemination from a metastatic precursor was a dominant rule. Alterations in key cancer driver genes, such as TP53 or CCND1, were acquired early while additional aberrations were present only in the metastatic branch. In about 30% of the patients, the metastatic lineage harboured less aberrations than the primary tumour suggesting a period of tumour dormancy or prolonged adaptation at the distant site. This phenomenon was mostly observed in tumours from de novo metastatic patients. Interpretation: Our results provide insights into ILC evolution and offer potential paths for optimised ILC care. Funding: This work has received financial support from Les Amis de l'Institut Bordet, MEDIC, the Breast Cancer Research Foundation (BCRF) and the Belgian Fonds National de la Recherche Scientifique (F.R.S-FNRS). |
| first_indexed | 2024-04-14T03:54:57Z |
| format | Article |
| id | doaj.art-f1e021284e2e456885dff5fdaa572060 |
| institution | Directory Open Access Journal |
| issn | 2352-3964 |
| language | English |
| last_indexed | 2024-04-14T03:54:57Z |
| publishDate | 2022-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | EBioMedicine |
| spelling | doaj.art-f1e021284e2e456885dff5fdaa5720602022-12-22T02:13:51ZengElsevierEBioMedicine2352-39642022-08-0182104169Timing evolution of lobular breast cancer through phylogenetic analysisDanai Fimereli0David Venet1Mattia Rediti2Bram Boeckx3Marion Maetens4Samira Majjaj5Ghizlane Rouas6Caterina Marchio7Francois Bertucci8Odette Mariani9Maria Capra10Giuseppina Bonizzi11Federica Contaldo12Christine Galant13Gert Van den Eynden14Roberto Salgado15Elia Biganzoli16Anne Vincent-Salomon17Giancarlo Pruneri18Denis Larsimont19Diether Lambrechts20Christine Desmedt21David N. Brown22Françoise Rothé23Christos Sotiriou24J.-C. Heuson Breast Cancer Translational Research Laboratory, Institut Jules Bordet, Université Libre de Bruxelles, Brussels, BelgiumJ.-C. Heuson Breast Cancer Translational Research Laboratory, Institut Jules Bordet, Université Libre de Bruxelles, Brussels, BelgiumJ.-C. Heuson Breast Cancer Translational Research Laboratory, Institut Jules Bordet, Université Libre de Bruxelles, Brussels, BelgiumLaboratory of Translational Genetics, VIB Center for Cancer Biology, Leuven, Belgium; Laboratory of Translational Genetics, Department of Human Genetics, KU Leuven, Leuven, BelgiumJ.-C. Heuson Breast Cancer Translational Research Laboratory, Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Laboratory for Translational Breast Cancer Research, Department of Oncology, KU Leuven, Leuven, BelgiumJ.-C. Heuson Breast Cancer Translational Research Laboratory, Institut Jules Bordet, Université Libre de Bruxelles, Brussels, BelgiumJ.-C. Heuson Breast Cancer Translational Research Laboratory, Institut Jules Bordet, Université Libre de Bruxelles, Brussels, BelgiumDepartment of Medical Sciences, University of Turin, Turin, Italy; FPO-IRCCS Candiolo Cancer Institute, Candiolo, ItalyPredictive Oncology Laboratory, Institut Paoli-Calmettes, CRCM, INSERM U1068, CNRS UMR7258, Aix-Marseille Université Marseille, FranceDepartment of Pathology, Institut Curie, Paris Sciences Lettres Research University, Paris, FranceBiobank for Translational Medicine Unit, Department of Pathology, European Institute of Oncology, Milan, ItalyBiobank for Translational Medicine Unit, Department of Pathology, European Institute of Oncology, Milan, ItalyBiobank for Translational Medicine Unit, Department of Pathology, European Institute of Oncology, Milan, ItalyDepartment of Pathology, Cliniques Universitaires Saint Luc, Brussels, Belgium; IREC, Université Catholique de Louvain, Brussels, BelgiumDepartment of Pathology, Sint Augustinus, Wilrijk, BelgiumDepartment of Pathology, GZA-ZNA Hospitals, Antwerp, Belgium; Division of Research, Peter Mac Callum Cancer Centre, Melbourne, AustraliaDepartment of Biomedical and Clinical Sciences (DIBIC) “L. Sacco” & DSRC, LITA Vialba campus, University of Milan, Milan, ItalyDepartment of Pathology, Institut Curie, Paris Sciences Lettres Research University, Paris, FranceDivision of Pathology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy; School of Medicine, University of Milan, Milano, Milan, ItalyDepartment of Pathology, Institut Jules Bordet, Brussels, BelgiumLaboratory of Translational Genetics, VIB Center for Cancer Biology, Leuven, Belgium; Laboratory of Translational Genetics, Department of Human Genetics, KU Leuven, Leuven, BelgiumLaboratory for Translational Breast Cancer Research, Department of Oncology, KU Leuven, Leuven, BelgiumJ.-C. Heuson Breast Cancer Translational Research Laboratory, Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USAJ.-C. Heuson Breast Cancer Translational Research Laboratory, Institut Jules Bordet, Université Libre de Bruxelles, Brussels, BelgiumJ.-C. Heuson Breast Cancer Translational Research Laboratory, Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Corresponding author at: Breast Cancer Translational Research Laboratory (BCTL), Université Libre de Bruxelles, Institut Jules Bordet, Rue Meylemeersh 90, 1070 Anderlecht, Belgium.Summary: Background: Late distant recurrence is a challenge for the treatment of invasive lobular carcinoma (ILC) of the breast. Despite in-depth characterisation of primary ILC, the molecular landscape of metastatic ILC is still only partially understood. Methods: We retrospectively identified 38 ILC patients from the tissue banks of six European institutions. DNA extracted from patient matched primary and metastatic FFPE tissue blocks was whole genome sequenced to compute somatic copy number aberrations. This, in turn, was used to infer the evolutionary history of these patients. Findings: The data show different metastatic seeding patterns, with both an early and late divergence of the metastatic lineage observed in ILC. Additionally, cascading dissemination from a metastatic precursor was a dominant rule. Alterations in key cancer driver genes, such as TP53 or CCND1, were acquired early while additional aberrations were present only in the metastatic branch. In about 30% of the patients, the metastatic lineage harboured less aberrations than the primary tumour suggesting a period of tumour dormancy or prolonged adaptation at the distant site. This phenomenon was mostly observed in tumours from de novo metastatic patients. Interpretation: Our results provide insights into ILC evolution and offer potential paths for optimised ILC care. Funding: This work has received financial support from Les Amis de l'Institut Bordet, MEDIC, the Breast Cancer Research Foundation (BCRF) and the Belgian Fonds National de la Recherche Scientifique (F.R.S-FNRS).http://www.sciencedirect.com/science/article/pii/S2352396422003504Breast cancerDistant metastasisHeterogeneityMetastatic disseminationTumour progression |
| spellingShingle | Danai Fimereli David Venet Mattia Rediti Bram Boeckx Marion Maetens Samira Majjaj Ghizlane Rouas Caterina Marchio Francois Bertucci Odette Mariani Maria Capra Giuseppina Bonizzi Federica Contaldo Christine Galant Gert Van den Eynden Roberto Salgado Elia Biganzoli Anne Vincent-Salomon Giancarlo Pruneri Denis Larsimont Diether Lambrechts Christine Desmedt David N. Brown Françoise Rothé Christos Sotiriou Timing evolution of lobular breast cancer through phylogenetic analysis EBioMedicine Breast cancer Distant metastasis Heterogeneity Metastatic dissemination Tumour progression |
| title | Timing evolution of lobular breast cancer through phylogenetic analysis |
| title_full | Timing evolution of lobular breast cancer through phylogenetic analysis |
| title_fullStr | Timing evolution of lobular breast cancer through phylogenetic analysis |
| title_full_unstemmed | Timing evolution of lobular breast cancer through phylogenetic analysis |
| title_short | Timing evolution of lobular breast cancer through phylogenetic analysis |
| title_sort | timing evolution of lobular breast cancer through phylogenetic analysis |
| topic | Breast cancer Distant metastasis Heterogeneity Metastatic dissemination Tumour progression |
| url | http://www.sciencedirect.com/science/article/pii/S2352396422003504 |
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