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Detection of ESR1 Mutations in Single Circulating Tumor Cells on Estrogen Deprivation Therapy but Not in Primary Tumors from Metastatic Luminal Breast Cancer Patients

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Detection of ESR1 Mutations in Single Circulating Tumor Cells on Estrogen Deprivation Therapy but Not in Primary Tumors from Metastatic Luminal Breast Cancer Patients. / Franken, André; Honisch, Ellen; Reinhardt, Florian; Meier-Stiegen, Franziska; Yang, Liwen; Jaschinski, Sandra; Esposito, Irene; Alberter, Barbara; Polzer, Bernhard; Huebner, Hanna; Fasching, Peter A; Pancholi, Sunil; Martin, Lesley-Ann; Ruckhaeberle, Eugen; Schochter, Fabienne; Tzschaschel, Marie; Hartkopf, Andreas D; Mueller, Volkmar; Niederacher, Dieter; Fehm, Tanja; Neubauer, Hans.

in: J MOL DIAGN, Jahrgang 22, Nr. 1, 01.2020, S. 111-121.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Franken, A, Honisch, E, Reinhardt, F, Meier-Stiegen, F, Yang, L, Jaschinski, S, Esposito, I, Alberter, B, Polzer, B, Huebner, H, Fasching, PA, Pancholi, S, Martin, L-A, Ruckhaeberle, E, Schochter, F, Tzschaschel, M, Hartkopf, AD, Mueller, V, Niederacher, D, Fehm, T & Neubauer, H 2020, 'Detection of ESR1 Mutations in Single Circulating Tumor Cells on Estrogen Deprivation Therapy but Not in Primary Tumors from Metastatic Luminal Breast Cancer Patients', J MOL DIAGN, Jg. 22, Nr. 1, S. 111-121. https://doi.org/10.1016/j.jmoldx.2019.09.004

APA

Franken, A., Honisch, E., Reinhardt, F., Meier-Stiegen, F., Yang, L., Jaschinski, S., Esposito, I., Alberter, B., Polzer, B., Huebner, H., Fasching, P. A., Pancholi, S., Martin, L-A., Ruckhaeberle, E., Schochter, F., Tzschaschel, M., Hartkopf, A. D., Mueller, V., Niederacher, D., ... Neubauer, H. (2020). Detection of ESR1 Mutations in Single Circulating Tumor Cells on Estrogen Deprivation Therapy but Not in Primary Tumors from Metastatic Luminal Breast Cancer Patients. J MOL DIAGN, 22(1), 111-121. https://doi.org/10.1016/j.jmoldx.2019.09.004

Vancouver

Franken A, Honisch E, Reinhardt F, Meier-Stiegen F, Yang L, Jaschinski S et al. Detection of ESR1 Mutations in Single Circulating Tumor Cells on Estrogen Deprivation Therapy but Not in Primary Tumors from Metastatic Luminal Breast Cancer Patients. J MOL DIAGN. 2020 Jan;22(1):111-121. https://doi.org/10.1016/j.jmoldx.2019.09.004

Bibtex

@article{81f5e10197194682863d6bb115dc0fd8,
title = "Detection of ESR1 Mutations in Single Circulating Tumor Cells on Estrogen Deprivation Therapy but Not in Primary Tumors from Metastatic Luminal Breast Cancer Patients",
abstract = "Mutations in the ligand-binding domain (LBD) of the ESR1 gene result in resistance to estrogen deprivation therapy (EDT) in breast cancer. Their detection might enable optimization of therapy strategies. However, the predictive utility of the primary tumor (PT) is limited, and obtaining serial biopsies of metastatic lesions is challenging. To underline their application as a liquid biopsy, single circulating tumor cells (CTCs) were analyzed with a next-generation sequencing approach for the ESR1 coding region. CTCs from 46 metastatic luminal breast cancer patients were enriched using CellSearch system and isolated by micromanipulation. Their genomic DNA was amplified and the ESR1 gene was sequenced. Furthermore, tissue samples from corresponding PTs and/or metastatic lesions were investigated. ESR1 mutations were detected in 12 patients-exclusively in patients treated with EDT (P = 0.048). In seven cases mutations were located in the hotspot regions in the LBD. Six novel mutations were identified. ESR1 mutations were absent in PT tissue samples and were detected only in metastases obtained after CTC characterization. Single-cell CTC analysis for ESR1 mutations could be of clinical value to identify patients who progress under EDT and therefore benefit from an early switch to an alternative endocrine therapy or other treatment regimens. Furthermore, our data indicate that mutations outside the LBD's hotspot regions might also contribute to resistance to EDT.",
author = "Andr{\'e} Franken and Ellen Honisch and Florian Reinhardt and Franziska Meier-Stiegen and Liwen Yang and Sandra Jaschinski and Irene Esposito and Barbara Alberter and Bernhard Polzer and Hanna Huebner and Fasching, {Peter A} and Sunil Pancholi and Lesley-Ann Martin and Eugen Ruckhaeberle and Fabienne Schochter and Marie Tzschaschel and Hartkopf, {Andreas D} and Volkmar Mueller and Dieter Niederacher and Tanja Fehm and Hans Neubauer",
note = "Copyright {\textcopyright} 2020 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.",
year = "2020",
month = jan,
doi = "10.1016/j.jmoldx.2019.09.004",
language = "English",
volume = "22",
pages = "111--121",
journal = "J MOL DIAGN",
issn = "1525-1578",
publisher = "Association of Molecular Pathology",
number = "1",

}

RIS

TY - JOUR

T1 - Detection of ESR1 Mutations in Single Circulating Tumor Cells on Estrogen Deprivation Therapy but Not in Primary Tumors from Metastatic Luminal Breast Cancer Patients

AU - Franken, André

AU - Honisch, Ellen

AU - Reinhardt, Florian

AU - Meier-Stiegen, Franziska

AU - Yang, Liwen

AU - Jaschinski, Sandra

AU - Esposito, Irene

AU - Alberter, Barbara

AU - Polzer, Bernhard

AU - Huebner, Hanna

AU - Fasching, Peter A

AU - Pancholi, Sunil

AU - Martin, Lesley-Ann

AU - Ruckhaeberle, Eugen

AU - Schochter, Fabienne

AU - Tzschaschel, Marie

AU - Hartkopf, Andreas D

AU - Mueller, Volkmar

AU - Niederacher, Dieter

AU - Fehm, Tanja

AU - Neubauer, Hans

N1 - Copyright © 2020 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

PY - 2020/1

Y1 - 2020/1

N2 - Mutations in the ligand-binding domain (LBD) of the ESR1 gene result in resistance to estrogen deprivation therapy (EDT) in breast cancer. Their detection might enable optimization of therapy strategies. However, the predictive utility of the primary tumor (PT) is limited, and obtaining serial biopsies of metastatic lesions is challenging. To underline their application as a liquid biopsy, single circulating tumor cells (CTCs) were analyzed with a next-generation sequencing approach for the ESR1 coding region. CTCs from 46 metastatic luminal breast cancer patients were enriched using CellSearch system and isolated by micromanipulation. Their genomic DNA was amplified and the ESR1 gene was sequenced. Furthermore, tissue samples from corresponding PTs and/or metastatic lesions were investigated. ESR1 mutations were detected in 12 patients-exclusively in patients treated with EDT (P = 0.048). In seven cases mutations were located in the hotspot regions in the LBD. Six novel mutations were identified. ESR1 mutations were absent in PT tissue samples and were detected only in metastases obtained after CTC characterization. Single-cell CTC analysis for ESR1 mutations could be of clinical value to identify patients who progress under EDT and therefore benefit from an early switch to an alternative endocrine therapy or other treatment regimens. Furthermore, our data indicate that mutations outside the LBD's hotspot regions might also contribute to resistance to EDT.

AB - Mutations in the ligand-binding domain (LBD) of the ESR1 gene result in resistance to estrogen deprivation therapy (EDT) in breast cancer. Their detection might enable optimization of therapy strategies. However, the predictive utility of the primary tumor (PT) is limited, and obtaining serial biopsies of metastatic lesions is challenging. To underline their application as a liquid biopsy, single circulating tumor cells (CTCs) were analyzed with a next-generation sequencing approach for the ESR1 coding region. CTCs from 46 metastatic luminal breast cancer patients were enriched using CellSearch system and isolated by micromanipulation. Their genomic DNA was amplified and the ESR1 gene was sequenced. Furthermore, tissue samples from corresponding PTs and/or metastatic lesions were investigated. ESR1 mutations were detected in 12 patients-exclusively in patients treated with EDT (P = 0.048). In seven cases mutations were located in the hotspot regions in the LBD. Six novel mutations were identified. ESR1 mutations were absent in PT tissue samples and were detected only in metastases obtained after CTC characterization. Single-cell CTC analysis for ESR1 mutations could be of clinical value to identify patients who progress under EDT and therefore benefit from an early switch to an alternative endocrine therapy or other treatment regimens. Furthermore, our data indicate that mutations outside the LBD's hotspot regions might also contribute to resistance to EDT.

U2 - 10.1016/j.jmoldx.2019.09.004

DO - 10.1016/j.jmoldx.2019.09.004

M3 - SCORING: Journal article

C2 - 31669227

VL - 22

SP - 111

EP - 121

JO - J MOL DIAGN

JF - J MOL DIAGN

SN - 1525-1578

IS - 1

ER -