Cell-free tumor DNA analysis in advanced or metastatic breast cancer patients: mutation frequencies, testing intention and clinical impact DOI Creative Commons
Hanna Huebner,

Pauline Wimberger,

Elena Laakmann

et al.

Precision Clinical Medicine, Journal Year: 2024, Volume and Issue: 8(1)

Published: Dec. 24, 2024

Abstract Background Circulating cell-free tumor DNA (ctDNA) provides a non-invasive approach for assessing somatic alterations. The German PRAEGNANT registry study aims to explore molecular biomarkers and investigate their integration into clinical practice. In this context, ctDNA testing was included understand the motivations of clinicians initiate testing, identify alterations, assess impact results obtained. Methods Patients with advanced/metastatic breast cancer were prospectively enrolled in Prospective Academic Translational Research Network Optimization Oncological Health Care Quality Adjuvant Advanced/Metastatic Setting (PRAEGNANT study; NCT02338167). FDA-approved CE-marked GUARDANT360 CDx test used A ctDNA-analysis report provided treating physician along questionnaire about intent implications results. Results from 49 patients analyzed prospectively: 37 (76%) had at least one alteration geneset; 14 (29%) harbored alterations TP53, 12 (24%) PIK3CA, 6 (12%) ESR1. Somatic mutations BRCA1 or BRCA2 detected 3 (6%) 4 (8%) patients, respectively, 59% hormone receptor-positive, human epidermal growth factor receptor 2-negative cancer. Questionnaires regarding intentions completed 48 (98%) patients. These showed that influenced treatment decisions 35% Discussion high prevalence ESR1, BRCA1/2 genes, identified by genotyping, highlights potential as targeted therapies. Detection specific affected decisions, such eligibility alpelisib, might further facilitate e.g. elacestrant capiversatib future lines.

Language: Английский

Next-generation sequencing for PTEN testing in HR+/HER2˗ metastatic breast cancer DOI
Nicola Fusco, Umberto Malapelle

Critical Reviews in Oncology/Hematology, Journal Year: 2025, Volume and Issue: unknown, P. 104626 - 104626

Published: Feb. 1, 2025

Language: Английский

Citations

1
The biological and technical challenges facing utilizing circulating tumor DNA in non-metastatic breast cancer patients DOI
Zihang Zeng, Zongbi Yi, Binghe Xu

et al.

Cancer Letters, Journal Year: 2025, Volume and Issue: 616, P. 217574 - 217574

Published: Feb. 19, 2025

Language: Английский

Citations

1
Unveiling the impact of circulating tumor cells: Two decades of discovery and clinical advancements in solid tumors DOI
Carolina Reduzzi, Eleonora Nicolò, Surbhi Singhal

et al.

Critical Reviews in Oncology/Hematology, Journal Year: 2024, Volume and Issue: 203, P. 104483 - 104483

Published: Aug. 17, 2024

Language: Английский

Citations

4
The role of <i>ESR1</i> gene mutation in therapy selection for HR+/HER2- metastatic breast cancer: A review DOI Open Access
А. А. Пайчадзе,

Ekaterina P. Chashnikova,

S. A. Golubeva

et al.

Journal of Modern Oncology, Journal Year: 2025, Volume and Issue: 26(4), P. 410 - 413

Published: Feb. 18, 2025

Estrogen receptors are detected in more than 70% of cases metastatic breast cancer (mBC). Currently, various hormonal therapy options used to treat these tumors. However, modern oncology faces an acute problem acquired resistance therapy, including late lines for HR-positive (HR+) and HER2-negative (HER2-) mBC. The common causes include mutations the ESR1 gene that usually absent primary tumor. These associated with aggravation disease. Until recently, their detection was only prognostic value not taken into account when choosing treatment regimen. As new data become available on role possible impact choice mBC it seems appropriate consider main criteria testing test methods detect routine clinical practice. This review article addresses issues related optimal progression HR+/HER2- during endocrine taking accumulated gene. We also studied oral selective estrogen receptor destructors as drugs significantly increase survival hormone-dependent

Language: Английский

Citations

0
The evolving landscape of genetic biomarkers for immunotherapy in primary and metastatic breast cancer DOI Creative Commons
Liang Jin, Zijian Yang, Wei Tang

et al.

Frontiers in Oncology, Journal Year: 2025, Volume and Issue: 15

Published: March 13, 2025

Background Major advances have been achieved in the characterization of primary breast cancer genomic profiles. Limited information is available on profile tumors originating from different metastatic locations recurrent/metastatic (R/M) cancer, especially Asian patients. This study aims to decipher mutational profiles and R/M Chinese patients using next-generation sequencing. Methods A total 563 were enrolled, 590 tumor tissues matched peripheral blood samples collected subjected targeted sequencing with a panel 1,021 cancer-related genes. The mutation spectrum, DNA damage response (DDR) genes, commonly altered signal pathways, immunotherapy-related markers compared between cancer. molecular differences our cohort Memorial Sloan Kettering Cancer Center (MSKCC) dataset also explored. Results 361 229 analyzed. BRCA2, ATRX , ATM more frequently observed lesions among 36 DDR An ESR1 PD-L1 PD-L2 amplification enriched (all p &lt;0.05). Compared MSKCC dataset, we recruited diagnosed at age 50 or younger triple-negative (TNBC) subtypes. TNBC had higher percentage metastasis ( Conclusions revealed distinctive features patients, which are those Western countries. enrichment indicates necessity re-biopsy for immunotherapy.

Language: Английский

Citations

0
Liquid biopsies in cancer DOI Creative Commons
Hang Yin, Manjie Zhang, Yu Zhang

et al.

Molecular Biomedicine, Journal Year: 2025, Volume and Issue: 6(1)

Published: March 20, 2025

Abstract Cancer ranks among the most lethal diseases worldwide. Tissue biopsy is currently primary method for diagnosis and biological analysis of various solid tumors. However, this has some disadvantages related to insufficient tissue specimen collection intratumoral heterogeneity. Liquid a noninvasive approach identifying cancer-related biomarkers in peripheral blood, which allows repetitive sampling across multiple time points. In field liquid biopsy, representative include circulating tumor cells (CTCs), DNA (ctDNA), exosomes. Many studies have evaluated prognostic predictive roles CTCs ctDNA Although these limitations, results appear consistently demonstrate correlations high CTC counts mutations with lower survival rates cancer patients. Similarly, reduction throughout therapy may be potential indicator treatment response advanced Moreover, biochemical characteristics can provide information about biology as well resistance mechanisms against targeted therapy. This review discusses current clinical applications patients, emphasizing its possible utility outcome prediction decision-making.

Language: Английский

Citations

0
Evaluation of ctDNA-based ESR1 testing in breast cancer: results from the first external quality assessment scheme in China DOI
Guigao Lin, Jing Li, Kuo Zhang

et al.

Expert Review of Molecular Diagnostics, Journal Year: 2025, Volume and Issue: unknown

Published: April 25, 2025

Circulating tumor DNA (ctDNA) testing of plasma for ESR1 somatic variants is essential guiding treatment decisions in hormone receptor-positive (HR + ) and HER2-negative (HER2-) advanced or metastatic breast cancer (MBC) patients who have progressed on frontline therapy. To ensure optimal, uniform, reliable across China, an pilot external quality assessment (EQA) scheme was established. Aliquots five artificial reference samples containing mutations at varying allelic frequencies were distributed to 37 laboratories reporting according routine procedures. The genotyping accuracy clinical evaluated against standardized criteria, feedback provided the participants. overall error rate EQA 6.29%, with 91.4% correctly identifying mutational status all samples. A variety extraction methods analytical techniques employed. However, reports often failed address risk that may not been tested, limitations methodologies used by participants insufficiently discussed. variability standards underscores importance educational guidance provision high-quality services.

Language: Английский

Citations

0
Standardized molecular pathology workflow for ctDNA-based ESR1 testing in HR+/HER2- metastatic breast cancer DOI

Elena Guerini-Rocco,

Konstantinos Venetis, Giulia Cursano

et al.

Critical Reviews in Oncology/Hematology, Journal Year: 2024, Volume and Issue: 201, P. 104427 - 104427

Published: June 24, 2024

Language: Английский

Citations

3
Genomic and clinical landscape of metastatic hormone receptors-positive breast cancers carrying ESR1 alterations DOI Creative Commons
Luca Boscolo Bielo, Elena Guerini‐Rocco, Dario Trapani

et al.

ESMO Open, Journal Year: 2024, Volume and Issue: 9(10), P. 103731 - 103731

Published: Oct. 1, 2024

Language: Английский

Citations

2
The “lows”: update on ER-low and HER2-low breast cancer DOI Open Access
Nicola Fusco,

G. Viale

The Breast, Journal Year: 2024, Volume and Issue: 78, P. 103831 - 103831

Published: Oct. 30, 2024

ER-low and HER2-low breast cancers have emerged as clinically significant subtypes that challenge traditional diagnostic categories treatment paradigms. These subtypes, representing a spectrum of disease, exhibit distinct biological behaviors, therapeutic responses, prognostic outcomes. cancer, defined by low HER2 protein expression (IHC score 1+ or 2+ without gene amplification), has achieved clinical significance, particularly following the DESTINY-Breast trials, which demonstrated efficacy trastuzumab deruxtecan (T-DXd) in population patients with advanced disease. Similarly, characterized estrogen receptor (in 1%-10 % invasive tumor cells), poses unique challenges due to its intermediate behavior uncertain response endocrine therapies. The identification these is further complicated inconsistencies testing methodologies, can lead misclassification impact decisions. As our understanding improves, need for standardized approaches individualized decisions becomes increasingly urgent. Ongoing research collaboration between pathologists oncologists are essential refining criteria improving outcomes theragnostic biomarkers. This review aims consolidate current knowledge on cancers, focusing associated their identification, implications treatment, future directions management. By examining recent studies interlaboratory assessments, this emphasizes critical accurate reproducible reporting, development tailored strategies "low" cancers.

Language: Английский

Citations

2