دورية أكاديمية
أعرض في EDS

Genomic Analysis of Circulating Tumor Cells at the Single-Cell Level.

التفاصيل البيبلوغرافية
العنوان: Genomic Analysis of Circulating Tumor Cells at the Single-Cell Level.
المؤلفون: Lu S; Department of Oncology Biomarker Development, Genentech Inc., South San Francisco, California; Stanford Genome Technology Center, Stanford University School of Medicine, Palo Alto, California., Chang CJ; Stanford Genome Technology Center, Stanford University School of Medicine, Palo Alto, California., Guan Y; Department of Oncology Biomarker Development, Genentech Inc., South San Francisco, California., Szafer-Glusman E; Department of Oncology Biomarker Development, Genentech Inc., South San Francisco, California., Punnoose E; Department of Oncology Biomarker Development, Genentech Inc., South San Francisco, California., Do A; Department of Oncology Biomarker Development, Genentech Inc., South San Francisco, California., Suttmann B; Department of Oncology Biomarker Development, Genentech Inc., South San Francisco, California., Gagnon R; Division of Expression Analysis Genomics, Q2 Solutions, Morrisville, North Carolina., Rodriguez A; Department of Translational Research, Epic Sciences Inc., San Diego, California., Landers M; Department of Translational Research, Epic Sciences Inc., San Diego, California., Spoerke J; Department of Oncology Biomarker Development, Genentech Inc., South San Francisco, California., Lackner MR; Department of Oncology Biomarker Development, Genentech Inc., South San Francisco, California., Xiao W; Stanford Genome Technology Center, Stanford University School of Medicine, Palo Alto, California. Electronic address: wzxiao@stanford.edu., Wang Y; Department of Oncology Biomarker Development, Genentech Inc., South San Francisco, California. Electronic address: wang.yulei@gene.com.
المصدر: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2020 Jun; Vol. 22 (6), pp. 770-781. Date of Electronic Publication: 2020 Apr 02.
نوع المنشور: Comparative Study; Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE
أسماء مطبوعة: Publication: 2011- : New York : Elsevier
Original Publication: Bethesda, MD : American Society for Investigative Pathology and the Association for Molecular Pathology, 1999-
مواضيع طبية MeSH: DNA Copy Number Variations*, Carcinoma, Non-Small-Cell Lung/*genetics , Lung Neoplasms/*genetics , Neoplastic Cells, Circulating/*metabolism , Single-Cell Analysis/*methods, Carcinoma, Non-Small-Cell Lung/blood ; Carcinoma, Non-Small-Cell Lung/pathology ; DNA Mutational Analysis/methods ; Genome, Human ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Lung Neoplasms/blood ; Lung Neoplasms/pathology ; PC-3 Cells ; Polymerase Chain Reaction/methods ; Reproducibility of Results ; Sensitivity and Specificity ; Whole Genome Sequencing/methods
مستخلص: Circulating tumor cells (CTCs) have a great potential for noninvasive diagnosis and real-time monitoring of cancer. A comprehensive evaluation of four whole genome amplification (WGA)/next-generation sequencing workflows for genomic analysis of single CTCs, including PCR-based (GenomePlex and Ampli1), multiple displacement amplification (Repli-g), and hybrid PCR- and multiple displacement amplification-based [multiple annealing and loop-based amplification cycling (MALBAC)] is reported herein. To demonstrate clinical utilities, copy number variations (CNVs) in single CTCs isolated from four patients with squamous non-small-cell lung cancer were profiled. Results indicate that MALBAC and Repli-g WGA have significantly broader genomic coverage compared with GenomePlex and Ampli1. Furthermore, MALBAC coupled with low-pass whole genome sequencing has better coverage breadth, uniformity, and reproducibility and is superior to Repli-g for genome-wide CNV profiling and detecting focal oncogenic amplifications. For mutation analysis, none of the WGA methods were found to achieve sufficient sensitivity and specificity by whole exome sequencing. Finally, profiling of single CTCs from patients with non-small-cell lung cancer revealed potentially clinically relevant CNVs. In conclusion, MALBAC WGA coupled with low-pass whole genome sequencing is a robust workflow for genome-wide CNV profiling at single-cell level and has great potential to be applied in clinical investigations. Nevertheless, data suggest that none of the evaluated single-cell sequencing workflows can reach sufficient sensitivity or specificity for mutation detection required for clinical applications.
(Copyright © 2020 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.)
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معلومات مُعتمدة: P50 GM021700 United States GM NIGMS NIH HHS; R01 GM101401 United States GM NIGMS NIH HHS
تواريخ الأحداث: Date Created: 20200406 Date Completed: 20210730 Latest Revision: 20211121
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC8351127
DOI: 10.1016/j.jmoldx.2020.02.013
PMID: 32247862
قاعدة البيانات: MEDLINE
الوصف
تدمد:1943-7811
DOI:10.1016/j.jmoldx.2020.02.013