Evidence map›Paper›PMID 42201922›Full record

ArticleMolecular oncology2026

ESR1 methylation and ESR1 mutations in circulating tumor cells (CTCs) and paired plasma-cfDNA of advanced breast cancer patients: A feasibility proof-of-concept study.

Dimitra Stergiopoulou, Athina Markou, Eleonora Nicolo, Mara S Serafini, Qiang Zhang, Youbin Zhang, Lorenzo Gerratana, Andrew A Davis, Huiping Liu, William J Gradishar and 3 more

Abstract read
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In one paragraph

Article in Molecular oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Dimitra StergiopoulouAnalysis of Circulating Tumor Cells, Laboratory of Analytical Chemistry, Department of Chemistry, University of Athens, Athens, Greece.ORCID https://orcid.org/0000-0002-3492-491X
Athina MarkouAnalysis of Circulating Tumor Cells, Laboratory of Analytical Chemistry, Department of Chemistry, University of Athens, Athens, Greece.ORCID https://orcid.org/0000-0001-7760-9701
Eleonora NicoloDivision of Hematology and Medical Oncology, Weill Cornell Medicine/New York-Presbyterian Hospital, New York, NY, USA.
Mara S SerafiniDivision of Hematology and Medical Oncology, Weill Cornell Medicine/New York-Presbyterian Hospital, New York, NY, USA.
Qiang ZhangRobert H. Lurie Cancer Center of Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.
Youbin ZhangRobert H. Lurie Cancer Center of Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.
Lorenzo GerratanaDepartment of Medical Oncology, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy.
Andrew A DavisDivision of Oncology, Washington University, St. Louis, MO, USA.
Huiping LiuRobert H. Lurie Cancer Center of Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.
William J GradisharRobert H. Lurie Cancer Center of Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.
Carolina ReduzziDivision of Hematology and Medical Oncology, Weill Cornell Medicine/New York-Presbyterian Hospital, New York, NY, USA.
Massimo CristofanilliDivision of Hematology and Medical Oncology, Weill Cornell Medicine/New York-Presbyterian Hospital, New York, NY, USA.
Evi LianidouAnalysis of Circulating Tumor Cells, Laboratory of Analytical Chemistry, Department of Chemistry, University of Athens, Athens, Greece.ORCID https://orcid.org/0000-0002-7796-5914

Funding

Northwestern University Clinical and Translational Science Institute (NUCATS)UL1TR001422 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI D'AQUILA, RICHARD · 2015 to 2023
$56.8M
Lynn Sage Cancer Research Foundation OncoSET Precision Medicine Program/ National InstiNCATS NIH HHS UL1 TR001422Stavros Niarchos Foundation / grant number 16785 National and Kapodistrian Univeristy of Athens /
6 · The paper itself

Abstract

Endocrine resistance is a complex phenomenon, including alterations of the ESR1 gene. The aim of this study was to simultaneously analyze ESR1 promoter methylation and ESR1 hotspot mutations in circulating tumor cells (CTCs) and paired plasma-circulating tumor DNA (ctDNA) from patients with estrogen receptor-positive (ER+) advanced breast cancer (BC). We retrospectively analyzed samples from 42 ER+ advanced BC patients characterized for CTCs and ctDNA at Northwestern University. CTCs were enumerated using the CellSearch® system, while ctDNA was analyzed with the Guardant360 NGS platform. Genomic DNA from CellSearch-enriched CTC fractions was amplified and analyzed using the ESR1-NAPA assay. ESR1 methylation analysis was performed in 34 samples. ESR1 mutations were detected in 59.5% CTC-derived samples, a significantly higher proportion than in paired plasma ctDNA (29.6%). ESR1 methylation was observed in 26.5% patients. Concurrent ESR1 mutations and methylation were identified in six cases, suggesting combined genetic and epigenetic mechanisms of endocrine resistance. Overall, CTC-derived genomic DNA showed higher sensitivity for detecting ESR1 mutations than plasma ctDNA, supporting the potential value of CTC analysis for characterizing endocrine resistance in advanced BC.

Indexed as

Breast NeoplasmsCirculating Tumor DNADNA MethylationEstrogen Receptor alphaMutationNeoplastic Cells, CirculatingAdultAgedFeasibility StudiesFemaleHumansMiddle AgedPromoter Regions, GeneticProof of Concept StudyCirculating Tumor DNAESR1 protein, humanEstrogen Receptor alphabreast cancerCTCsctDNAESR1 methylationESR1 mutationsliquid biopsy

Identifiers

PMID42201922
PMCPMC13398972

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.