Heterogeneous mutation pattern in tumor tissue and circulating tumor DNA warrants parallel NGS panel testing

Molecular Cancer
Qiaomei GuoJianFeng Chen

Abstract

Liquid biopsy by genotyping circulating tumor DNA (ctDNA) has provided a non-invasive approach in assessing tumor genomic alterations in clinical oncology. However, emerging evidence in clinical settings has shown significant discordance in the genomic alterations between matched tumor tissue and blood ctDNA samples, and even between the same set of blood samples analyzed on different testing platforms. Thus, it is necessary to study underlying causes of discrepancies in these studies by genotyping tumor tissue and ctDNA in parallel using next generation sequencing (NGS) panels based on the same technology. Here we enrolled 56 non-small-cell lung cancer (NSCLC) patients and evaluated tumor tissue genotyping and ctDNA based liquid biopsy by parallel NGS panel testing and compared different sample preparation conditions. Somatic mutations in plasma cell-free DNA (cfDNA) were detected in 63.6% patients with early-stage NSCLC and 60% patients with advanced-stage NSCLC. The overall concordance between matched formalin-fixed paraffin-embedded sample and cfDNA was 54.6% in early-stage NSCLC patients and 80% in advanced-stage NSCLC patients. The positive concordance rate was 44.4% and 71.4% in early-stage and advanced-stage patients, r...Continue Reading

References

Apr 17, 2015·Science Translational Medicine·Siân JonesVictor E Velculescu
Dec 16, 2016·JAMA Oncology·Nicole M KudererC Anthony Blau
Apr 27, 2017·The New England Journal of Medicine·Mariam Jamal-HanjaniUNKNOWN TRACERx Consortium
Apr 27, 2017·Nature·Christopher AbboshCharles Swanton
Aug 18, 2017·Science Translational Medicine·Jillian PhallenVictor E Velculescu
Dec 16, 2017·JAMA Oncology·Gonzalo Torga, Kenneth J Pienta

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Citations

Apr 12, 2020·Journal of Cellular and Molecular Medicine·Nan WuZhihong Wu
Aug 30, 2019·Genome Medicine·Megan M RichtersMalachi Griffith
Aug 28, 2019·International Journal of Molecular Sciences·Dana DvorskáZuzana Danková
Aug 8, 2019·International Journal of Molecular Sciences·Dana DvorskáZuzana Danková
Sep 5, 2020·Cancer Management and Research·Hai-Bo ShenTian-Jun Hu
Jan 28, 2021·The Journal of Pathology. Clinical Research·Sissel Gyrid Freim WahlBjørn Henning Grønberg
Apr 4, 2021·Pharmaceuticals·Vincent Camus, Fabrice Jardin

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Methods Mentioned

BETA
biopsy
genotyping
biopsies
PCR

Software Mentioned

Qubit
PlasmaSELECT

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