Utilization of Liquid Biopsy in Cancer Diagnosis and Management

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (28 February 2023) | Viewed by 5416

Special Issue Editors


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Guest Editor
Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB, Canada
Interests: liquid biopsy; precision medicine; cancer diagnostics; nanotechnologies

Special Issue Information

Dear Colleagues,

Precision medicine has evolved in the last decade, with ongoing improvements in diagnostic and prognostic procedures. Therapeutic protocols have been established, and healthcare institutions, as well as national institutes of health, have dramatically changed patient outcomes. The desire to minimize the amount of tissue needed for precision medicine procedures expanded the protocols from peripheral blood for the analysis of cell-free circulating tumor DNA to RNA, circulating tumor cells (CTCs), extracellular vesicles (EVs), and even tumor-educated platelets (TEPs). Next-generation sequencing (NGS) and nanotechnologies are changing our approach to both cancer and non-cancerous clinical settings. The College of American Pathologists, of which one of the authors is a house delegate, promotes further the capillarization of liquid biopsy in peripheral rather than central clinical pathology laboratories. We welcome any submissions involved in supporting this technique in the third decade of the 21st century.

Dr. Brian Chiu
Prof. Consolato M. Sergi
Guest Editors

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Keywords

  • liquid biopsy
  • precision medicine
  • cancer diagnostics
  • nanotechnologies

Published Papers (2 papers)

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Research

15 pages, 2908 KiB  
Article
Real-World Analysis of the EGFR Mutation Test in Tissue and Plasma Samples from Non-Small Cell Lung Cancer
by Hyunwoo Lee, Joungho Han and Yoon-La Choi
Diagnostics 2021, 11(9), 1695; https://doi.org/10.3390/diagnostics11091695 - 17 Sep 2021
Cited by 3 | Viewed by 2300
Abstract
Molecular evaluation of EGFR mutation is indispensable in treating non-small cell lung cancer (NSCLC). We compared the results of EGFR analysis using tissue DNA (tDNA) and circulating tumor (ctDNA) to evaluate the feasibility of plasma as an effective material for detecting EGFR mutation [...] Read more.
Molecular evaluation of EGFR mutation is indispensable in treating non-small cell lung cancer (NSCLC). We compared the results of EGFR analysis using tissue DNA (tDNA) and circulating tumor (ctDNA) to evaluate the feasibility of plasma as an effective material for detecting EGFR mutation and the reliability of ctDNA analysis in real-world practice settings. We enrolled 554 NSCLC cases who had undergone ctDNA EGFR analysis between January 2019 and March 2020. EGFR mutations were detected in 240 (57.3%) of the 421 cases with EGFR mutations confirmed by tDNA analysis. In multivariate analysis, the size of the largest tumor deposits, disease progression, M stage, the detectable amount of tumor tissue with EGFR mutation in distant metastasis, liver metastasis, pleural seeding, and bone metastasis (p < 0.05) were identified as independent factors affecting the detection rate of EGFR mutations in ctDNA. Survival analysis revealed ctDNA status and M stage (p < 0.001) to be independent predictors of overall survival in the multivariate analysis. Our study demonstrates that EGFR analysis using ctDNA is a useful clinical tool and can aid in therapeutic decisions in real-world practical settings. However, clinicians should be aware of the possibility of false negatives and confirm EGFR analysis using tDNA in certain situations. Full article
(This article belongs to the Special Issue Utilization of Liquid Biopsy in Cancer Diagnosis and Management)
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12 pages, 914 KiB  
Article
Technical Evaluation of the COBAS EGFR Semiquantitative Index (SQI) for Plasma cfDNA Testing in NSCLC Patients with EGFR Exon 19 Deletions
by José Manuel González de Aledo-Castillo, Samira Serhir-Sgheiri, Neus Calbet-Llopart, Ainara Arcocha, Pedro Jares, Noemí Reguart and Joan Antón Puig-Butillé
Diagnostics 2021, 11(8), 1319; https://doi.org/10.3390/diagnostics11081319 - 22 Jul 2021
Cited by 3 | Viewed by 1852
Abstract
The cobas® EGFR Test provides a semiquantitative index (SQI) that reflects the proportion of mutated versus wild-type copies of the EGFR gene in plasma. The significance of SQI as an indirect measure of the variant allele frequency (VAF) or mutated copies/mL remains [...] Read more.
The cobas® EGFR Test provides a semiquantitative index (SQI) that reflects the proportion of mutated versus wild-type copies of the EGFR gene in plasma. The significance of SQI as an indirect measure of the variant allele frequency (VAF) or mutated copies/mL remains unclear. The aim of this study was to evaluate the correlation of SQI with the VAF and the number of mutated copies/mL obtained by a digital droplet PCR (ddPCR) test in NSCLC samples. The study included 118 plasma samples from a retrospective cohort of 25 stage IV adenocarcinoma patients with EGFR exon 19 deletions (Ex19Del), obtained before and during tyrosine kinase inhibitor (TKI) treatment. Both SQI and VAF and SQI and mutated copies/mL showed the same significant correlation (r2 = 0.79, p < 0.00001) across the whole study cohort. We found better correlation in samples collected at the baseline between SQI and VAF (r2 = 0.94, p < 0.00001) and SQI and mutated copies/mL (r2 = 0.97, p < 0.00001) compared to samples collected during TKI treatment: r2 = 0.76; p < 0.00001 for SQI and VAF and r2 = 0.75; p < 0.00001 for SQI and mutated copies/mL. The study indicates that SQI is a robust quantitative indirect measure of VAF and the number of mutated copies/mL in plasma from patients with an EGFR Ex19Del mutation. Further studies are desirable to assess the SQI cut-off values related to the clinical status of the patient. Full article
(This article belongs to the Special Issue Utilization of Liquid Biopsy in Cancer Diagnosis and Management)
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