Evaluation of endocrine resistance using ESR1 genotyping of circulating tumor cells and plasma DNA

Sundaresan, Tilak; Dubash, Taronish D.; Zheng, Zongli; Bardia, Aditya; Wittner, Ben S.; Aceto, Nicola; Silva, Erin J.; Fox, Douglas B.; Liebers, Matthew; Kapur, Ravi; Iafrate, John; Toner, Mehmet; Maheswaran, Shyamala; Haber, Daniel A.

doi:10.1007/s10549-021-06270-z

Cited by 10 publications

(6 citation statements)

References 30 publications

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“…However, these mutations were absent in the primary tumor tissue sample but were detected in metastases obtained after CTCs analysis. A study evaluating the detection of ESR1 mutations in CTCs found concordance with ctDNA in 95% of cases [56]. However, an additional study suggested that the detection of ESR1 mutations and splice variants may be less sensitive in CTCs compared to ctDNA, although this was a smaller study [57].…”

Section: Precision Medicinementioning

confidence: 92%

Utilization of Circulating Tumor Cells in the Management of Solid Tumors

Kurniali

Storandt

Jin

2023

JPM

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Circulating tumor cells (CTCs) are tumor cells shed from the primary tumor into circulation, with clusters of CTCs responsible for cancer metastases. CTC detection and isolation from the bloodstream are based on properties distinguishing CTCs from normal blood cells. Current CTC detection techniques can be divided into two main categories: label dependent, which depends upon antibodies that selectively bind cell surface antigens present on CTCs, or label-independent detection, which is detection based on the size, deformability, and biophysical properties of CTCs. CTCs may play significant roles in cancer screening, diagnosis, treatment navigation, including prognostication and precision medicine, and surveillance. In cancer screening, capturing and evaluating CTCs from peripheral blood could be a strategy to detect cancer at its earliest stage. Cancer diagnosis using liquid biopsy could also have tremendous benefits. Full utilization of CTCs in the clinical management of malignancies may be feasible in the near future; however, several challenges still exist. CTC assays currently lack adequate sensitivity, especially in early-stage solid malignancies, due to low numbers of detectable CTCs. As assays improve and more trials evaluate the clinical utility of CTC detection in guiding therapies, we anticipate increased use in cancer management.

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Section: Precision Medicinementioning

confidence: 92%

Utilization of Circulating Tumor Cells in the Management of Solid Tumors

Kurniali

Storandt

Jin

2023

JPM

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“…High-sensitivity ESR1 sequencing from CTCs revealed mono- and oligoclonal mutations in 22% of patients that were concordant with plasma-cfDNA sequencing in 95% of cases. Detection of ESR1 mutations was correlated both with time to metastatic relapse and duration of AI-based therapy following such recurrence and was associated with shorter PFS on AI-based therapies [ 35 ]. A low cost, highly specific, sensitive and robust assay (NAPA assay) was reported for hotspot ESR1 mutations in CTCs and paired plasma ctDNA having concordance with drop-off ddPCR of 90.6% [ 36 ].…”

Section: Ctc: Challenges For the Management Of Cancer Patientsmentioning

confidence: 99%

Detection and Molecular Characterization of Circulating Tumour Cells: Challenges for the Clinical Setting

Strati

Markou

Kyriakopoulou

et al. 2023

Cancers

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Over the last decade, liquid biopsy has gained much attention as a powerful tool in personalized medicine since it enables monitoring cancer evolution and follow-up of cancer patients in real time. Through minimally invasive procedures, liquid biopsy provides important information through the analysis of circulating tumour cells (CTCs) and circulating tumour-derived material, such as circulating tumour DNA (ctDNA), circulating miRNAs (cfmiRNAs) and extracellular vehicles (EVs). CTC analysis has already had an important impact on the prognosis, detection of minimal residual disease (MRD), treatment selection and monitoring of cancer patients. Numerous clinical trials nowadays include a liquid biopsy arm. CTC analysis is now an exponentially expanding field in almost all types of solid cancers. Functional studies, mainly based on CTC-derived cell-lines and CTC-derived explants (CDx), provide important insights into the metastatic process. The purpose of this review is to summarize the latest findings on the clinical significance of CTCs for the management of cancer patients, covering the last four years. This review focuses on providing a comprehensive overview of CTC analysis in breast, prostate and non-small-cell lung cancer. The unique potential of CTC single-cell analysis for understanding metastasis biology, and the importance of quality control and standardization of methodologies used in this field, is also discussed.

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“…Profiling of CTCs from metastatic BC patients has also highlighted the utility for longitudinal patient monitoring and for detection of ESR1 genomic mutations mediating endocrine resistance [134]. These studies have revealed higher ER pathway activation in CTCs from ESR1 ‐wild‐type AI‐resistant patients compared with patients harbouring ESR1 mutations [135].…”

Section: Longitudinal Monitoring Through Circulating Tumour Cell Prof...mentioning

confidence: 99%

Implications of tumour heterogeneity on cancer evolution and therapy resistance: lessons from breast cancer

Thakur,

Haider,

Natrajan

2023

The Journal of Pathology

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Tumour heterogeneity is pervasive amongst many cancers and leads to disease progression, and therapy resistance. In this review, using breast cancer as an exemplar, we focus on the recent advances in understanding the interplay between tumour cells and their microenvironment using single cell sequencing and digital spatial profiling technologies. Further, we discuss the utility of lineage tracing methodologies in pre‐clinical models of breast cancer, and how these are being used to unravel new therapeutic vulnerabilities and reveal biomarkers of breast cancer progression. © 2023 The Pathological Society of Great Britain and Ireland.

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Evaluation of endocrine resistance using ESR1 genotyping of circulating tumor cells and plasma DNA

Cited by 10 publications

References 30 publications

Utilization of Circulating Tumor Cells in the Management of Solid Tumors

Utilization of Circulating Tumor Cells in the Management of Solid Tumors

Detection and Molecular Characterization of Circulating Tumour Cells: Challenges for the Clinical Setting

Implications of tumour heterogeneity on cancer evolution and therapy resistance: lessons from breast cancer

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