Therapeutic role of recurrent ESR1-CCDC170 gene fusions in breast cancer endocrine resistance.


Journal

Breast cancer research : BCR
ISSN: 1465-542X
Titre abrégé: Breast Cancer Res
Pays: England
ID NLM: 100927353

Informations de publication

Date de publication:
08 08 2020
Historique:
received: 15 10 2019
accepted: 27 07 2020
entrez: 11 8 2020
pubmed: 11 8 2020
medline: 14 1 2021
Statut: epublish

Résumé

Endocrine therapy is the most common treatment for estrogen receptor (ER)-positive breast cancer, but its effectiveness is limited by high rates of primary and acquired resistance. There are likely many genetic causes, and recent studies suggest the important role of ESR1 mutations and fusions in endocrine resistance. Previously, we reported a recurrent ESR1 fusion called ESR1-CCDC170 in 6-8% of the luminal B breast cancers that has a worse clinical outcome after endocrine therapy. Despite being the most frequent ESR1 fusion, its functional role in endocrine resistance has not been studied in vivo, and the engaged mechanism and therapeutic relevance remain uncharacterized. The endocrine sensitivities of HCC1428 or T47D breast cancer cells following genetic perturbations of ESR1-CCDC170 were assessed using clonogenic assays and/or xenograft mouse models. The underlying mechanisms were investigated by reverse phase protein array, western blotting, immunoprecipitation, and bimolecular fluorescence complementation assays. The sensitivity of ESR1-CCDC170 expressing breast cancer cells to concomitant treatments of tamoxifen and HER/SRC inhibitors was assessed by clonogenic assays. Our results suggested that different ESR1-CCDC170 fusions endow different levels of reduced endocrine sensitivity in vivo, resulting in significant survival disadvantages. Further investigation revealed a novel mechanism that ESR1-CCDC170 binds to HER2/HER3/SRC and activates SRC/PI3K/AKT signaling. Silencing of ESR1-CCDC170 in the fusion-positive cell line, HCC1428, downregulates HER2/HER3, represses pSRC/pAKT, and improves endocrine sensitivity. More important, breast cancer cells expressing ectopic or endogenous ESR1-CCDC170 are highly sensitive to treatment regimens combining endocrine agents with the HER2 inhibitor lapatinib and/or the SRC inhibitor dasatinib. ESR1-CCDC170 may endow breast cancer cell survival under endocrine therapy via maintaining/activating HER2/HER3/SRC/AKT signaling which implies a potential therapeutic strategy for managing these fusion positive tumors.

Sections du résumé

BACKGROUND
Endocrine therapy is the most common treatment for estrogen receptor (ER)-positive breast cancer, but its effectiveness is limited by high rates of primary and acquired resistance. There are likely many genetic causes, and recent studies suggest the important role of ESR1 mutations and fusions in endocrine resistance. Previously, we reported a recurrent ESR1 fusion called ESR1-CCDC170 in 6-8% of the luminal B breast cancers that has a worse clinical outcome after endocrine therapy. Despite being the most frequent ESR1 fusion, its functional role in endocrine resistance has not been studied in vivo, and the engaged mechanism and therapeutic relevance remain uncharacterized.
METHODS
The endocrine sensitivities of HCC1428 or T47D breast cancer cells following genetic perturbations of ESR1-CCDC170 were assessed using clonogenic assays and/or xenograft mouse models. The underlying mechanisms were investigated by reverse phase protein array, western blotting, immunoprecipitation, and bimolecular fluorescence complementation assays. The sensitivity of ESR1-CCDC170 expressing breast cancer cells to concomitant treatments of tamoxifen and HER/SRC inhibitors was assessed by clonogenic assays.
RESULTS
Our results suggested that different ESR1-CCDC170 fusions endow different levels of reduced endocrine sensitivity in vivo, resulting in significant survival disadvantages. Further investigation revealed a novel mechanism that ESR1-CCDC170 binds to HER2/HER3/SRC and activates SRC/PI3K/AKT signaling. Silencing of ESR1-CCDC170 in the fusion-positive cell line, HCC1428, downregulates HER2/HER3, represses pSRC/pAKT, and improves endocrine sensitivity. More important, breast cancer cells expressing ectopic or endogenous ESR1-CCDC170 are highly sensitive to treatment regimens combining endocrine agents with the HER2 inhibitor lapatinib and/or the SRC inhibitor dasatinib.
CONCLUSION
ESR1-CCDC170 may endow breast cancer cell survival under endocrine therapy via maintaining/activating HER2/HER3/SRC/AKT signaling which implies a potential therapeutic strategy for managing these fusion positive tumors.

Identifiants

pubmed: 32771039
doi: 10.1186/s13058-020-01325-3
pii: 10.1186/s13058-020-01325-3
pmc: PMC7414578
doi:

Substances chimiques

CCDC170 protein, human 0
Carrier Proteins 0
ESR1 protein, human 0
Estrogen Receptor alpha 0
Oncogene Proteins, Fusion 0
Tamoxifen 094ZI81Y45
Lapatinib 0VUA21238F
Fulvestrant 22X328QOC4
ERBB2 protein, human EC 2.7.10.1
Receptor, ErbB-2 EC 2.7.10.1
src-Family Kinases EC 2.7.10.2
Dasatinib RBZ1571X5H

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

84

Subventions

Organisme : NCI NIH HHS
ID : R01 CA181368
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA183976
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA125123
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NIH HHS
ID : 1R01 CA183976
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA097190
Pays : United States
Organisme : NCI NIH HHS
ID : R21 CA237964
Pays : United States
Organisme : NIH HHS
ID : 1R01 CA181368
Pays : United States

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Auteurs

Li Li (L)

Hillman Cancer Center, University of Pittsburgh, Pittsburgh, PA, 15232, USA.
Department of Pathology, University of Pittsburgh, Pittsburgh, PA, 15261, USA.
Women's Cancer Research Center, Magee-Womens Research Institute, Pittsburgh, PA, 15213, USA.
Department of Cell Biology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, 100191, China.

Ling Lin (L)

Hillman Cancer Center, University of Pittsburgh, Pittsburgh, PA, 15232, USA.
Department of Pathology, University of Pittsburgh, Pittsburgh, PA, 15261, USA.
Women's Cancer Research Center, Magee-Womens Research Institute, Pittsburgh, PA, 15213, USA.

Jamunarani Veeraraghavan (J)

Lester & Sue Smith Breast Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Department of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.
Molecular & Cellular Biology, Baylor College of Medicine, Houston, TX, 77030, USA.

Yiheng Hu (Y)

Hillman Cancer Center, University of Pittsburgh, Pittsburgh, PA, 15232, USA.
Department of Pathology, University of Pittsburgh, Pittsburgh, PA, 15261, USA.
Women's Cancer Research Center, Magee-Womens Research Institute, Pittsburgh, PA, 15213, USA.
Lester & Sue Smith Breast Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Department of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.

Xian Wang (X)

Hillman Cancer Center, University of Pittsburgh, Pittsburgh, PA, 15232, USA.
Department of Pathology, University of Pittsburgh, Pittsburgh, PA, 15261, USA.
Women's Cancer Research Center, Magee-Womens Research Institute, Pittsburgh, PA, 15213, USA.
Lester & Sue Smith Breast Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Department of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.

Sanghoon Lee (S)

Hillman Cancer Center, University of Pittsburgh, Pittsburgh, PA, 15232, USA.
Department of Biomedical Informatics, University of Pittsburgh, Pittsburgh, PA, 15206, USA.

Ying Tan (Y)

Lester & Sue Smith Breast Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Department of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.

Rachel Schiff (R)

Lester & Sue Smith Breast Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Department of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.
Molecular & Cellular Biology, Baylor College of Medicine, Houston, TX, 77030, USA.

Xiao-Song Wang (XS)

Hillman Cancer Center, University of Pittsburgh, Pittsburgh, PA, 15232, USA. xiaosongw@pitt.edu.
Department of Pathology, University of Pittsburgh, Pittsburgh, PA, 15261, USA. xiaosongw@pitt.edu.
Women's Cancer Research Center, Magee-Womens Research Institute, Pittsburgh, PA, 15213, USA. xiaosongw@pitt.edu.
Lester & Sue Smith Breast Center, Baylor College of Medicine, Houston, TX, 77030, USA. xiaosongw@pitt.edu.
Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX, 77030, USA. xiaosongw@pitt.edu.
Department of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA. xiaosongw@pitt.edu.
Molecular & Cellular Biology, Baylor College of Medicine, Houston, TX, 77030, USA. xiaosongw@pitt.edu.
Department of Biomedical Informatics, University of Pittsburgh, Pittsburgh, PA, 15206, USA. xiaosongw@pitt.edu.

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