Potential applications of gene expression profiles obtained from circulating extracellular vesicles in breast cancer

Background: Liquid biopsy-based biomarkers offer several advantages since they are minimally invasive, can be useful in longitudinal monitoring of the disease and have higher patient compliance. We describe a protocol using minimal volumes of archival and prospective serum/plasma samples to define t...

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Main Authors: Aritra Gupta, Siddharth Bhardwaj, Sayan Ghorai, Rosina Ahmed, Sanjit Agarwal, Geetashree Mukherjee, Kartiki V. Desai
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:The Journal of Liquid Biopsy
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Online Access:http://www.sciencedirect.com/science/article/pii/S2950195425000037
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author Aritra Gupta
Siddharth Bhardwaj
Sayan Ghorai
Rosina Ahmed
Sanjit Agarwal
Geetashree Mukherjee
Kartiki V. Desai
author_facet Aritra Gupta
Siddharth Bhardwaj
Sayan Ghorai
Rosina Ahmed
Sanjit Agarwal
Geetashree Mukherjee
Kartiki V. Desai
author_sort Aritra Gupta
collection DOAJ
description Background: Liquid biopsy-based biomarkers offer several advantages since they are minimally invasive, can be useful in longitudinal monitoring of the disease and have higher patient compliance. We describe a protocol using minimal volumes of archival and prospective serum/plasma samples to define the RNA contents of EVs and discuss its benefits and limitations. Methods: RNA-seq analysis of matched tumor biopsy, circulating EVs from breast cancer patients (EV-C, n = 26) and healthy donors (EV-H, n = 4) was performed and differentially expressed genes were validated by RT-PCR in a separate series of samples (EV-C, n = 32 and EV-H, n = 22). A total of 84 samples were studied. Results: RNA-seq data from 500 μl serum samples yielded more than 17000 genes, of which 320 were DEGs (adjusted p value ≤ 0.05) between EV-C and EV-H samples. Pathways for Myc V1, reactive oxygen species, angiogenesis, allograft rejection and Interferon regulated genes were over-represented in EV-C samples. Computational deconvolution algorithms for cell signatures identified immune cells such as Th1 and memory T-cells, endothelial cells, and osteoblasts from the stromal compartment as significant. Top 6 genes were validated by qRT-PCR in all samples (n = 84) and they consistently and correctly classified cancer and healthy groups. An independent set of 374 and 640 DEGs could segregate ER positive/ER negative and non-metastatic versus metastatic samples, respectively. EVs from metastatic samples had higher variability in gene expression patterns whereas those from non-metastatic samples showed a better correlation. Conclusion: By using low serum amounts successfully for EV transcriptomics, we demonstrate that a minimally invasive technique could be converted to a microinvasive format. These data lay the foundation for EV RNA based biomarker discovery for segregating breast cancers.
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spelling doaj-art-e3c4a8f2a0ae4ab39505df0435a5cbbc2025-08-20T03:44:28ZengElsevierThe Journal of Liquid Biopsy2950-19542025-03-01710028710.1016/j.jlb.2025.100287Potential applications of gene expression profiles obtained from circulating extracellular vesicles in breast cancerAritra Gupta0Siddharth Bhardwaj1Sayan Ghorai2Rosina Ahmed3Sanjit Agarwal4Geetashree Mukherjee5Kartiki V. Desai6Biotechnology Research Innovation Council-National Institute of Biomedical Genomics (BRIC-NIBMG), Kalyani, India; Regional Centre for Biotechnology, PhD Program, IndiaBiotechnology Research Innovation Council-National Institute of Biomedical Genomics (BRIC-NIBMG), Kalyani, IndiaBiotechnology Research Innovation Council-National Institute of Biomedical Genomics (BRIC-NIBMG), Kalyani, India; Regional Centre for Biotechnology, PhD Program, IndiaTata Medical Centre, 14 MAR (DH Block), New Town, Rajarhat, Kolkata, 700160, IndiaTata Medical Centre, 14 MAR (DH Block), New Town, Rajarhat, Kolkata, 700160, IndiaTata Medical Centre, 14 MAR (DH Block), New Town, Rajarhat, Kolkata, 700160, IndiaBiotechnology Research Innovation Council-National Institute of Biomedical Genomics (BRIC-NIBMG), Kalyani, India; Corresponding author. BRIC-National Institute of Biomedical Genomics P.O. N.S.S, Kalyani, 741251, India.Background: Liquid biopsy-based biomarkers offer several advantages since they are minimally invasive, can be useful in longitudinal monitoring of the disease and have higher patient compliance. We describe a protocol using minimal volumes of archival and prospective serum/plasma samples to define the RNA contents of EVs and discuss its benefits and limitations. Methods: RNA-seq analysis of matched tumor biopsy, circulating EVs from breast cancer patients (EV-C, n = 26) and healthy donors (EV-H, n = 4) was performed and differentially expressed genes were validated by RT-PCR in a separate series of samples (EV-C, n = 32 and EV-H, n = 22). A total of 84 samples were studied. Results: RNA-seq data from 500 μl serum samples yielded more than 17000 genes, of which 320 were DEGs (adjusted p value ≤ 0.05) between EV-C and EV-H samples. Pathways for Myc V1, reactive oxygen species, angiogenesis, allograft rejection and Interferon regulated genes were over-represented in EV-C samples. Computational deconvolution algorithms for cell signatures identified immune cells such as Th1 and memory T-cells, endothelial cells, and osteoblasts from the stromal compartment as significant. Top 6 genes were validated by qRT-PCR in all samples (n = 84) and they consistently and correctly classified cancer and healthy groups. An independent set of 374 and 640 DEGs could segregate ER positive/ER negative and non-metastatic versus metastatic samples, respectively. EVs from metastatic samples had higher variability in gene expression patterns whereas those from non-metastatic samples showed a better correlation. Conclusion: By using low serum amounts successfully for EV transcriptomics, we demonstrate that a minimally invasive technique could be converted to a microinvasive format. These data lay the foundation for EV RNA based biomarker discovery for segregating breast cancers.http://www.sciencedirect.com/science/article/pii/S2950195425000037Liquid biopsyDiagnosisTranscriptomics
spellingShingle Aritra Gupta
Siddharth Bhardwaj
Sayan Ghorai
Rosina Ahmed
Sanjit Agarwal
Geetashree Mukherjee
Kartiki V. Desai
Potential applications of gene expression profiles obtained from circulating extracellular vesicles in breast cancer
The Journal of Liquid Biopsy
Liquid biopsy
Diagnosis
Transcriptomics
title Potential applications of gene expression profiles obtained from circulating extracellular vesicles in breast cancer
title_full Potential applications of gene expression profiles obtained from circulating extracellular vesicles in breast cancer
title_fullStr Potential applications of gene expression profiles obtained from circulating extracellular vesicles in breast cancer
title_full_unstemmed Potential applications of gene expression profiles obtained from circulating extracellular vesicles in breast cancer
title_short Potential applications of gene expression profiles obtained from circulating extracellular vesicles in breast cancer
title_sort potential applications of gene expression profiles obtained from circulating extracellular vesicles in breast cancer
topic Liquid biopsy
Diagnosis
Transcriptomics
url http://www.sciencedirect.com/science/article/pii/S2950195425000037
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