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Detection of Microsatellite Instability in Colorectal Cancer Patients With a Plasma-Based Real-Time PCR Analysis

Authors
Kim, NamjooKim, Sung MinLee, Beom JaeChoi, Byung ilYoon, Hee SookKang, Sang HeeKim, Seung HanJoo, Moon KyungPark, Jong-JaeKim, Chungyeul
Issue Date
8-Dec-2021
Publisher
Frontiers Media S.A.
Keywords
microsatellite instability; real-time PCR; colorectal cancer; mismatch repair; liquid biopsy
Citation
Frontiers in Pharmacology, v.12
Indexed
SCIE
SCOPUS
Journal Title
Frontiers in Pharmacology
Volume
12
URI
https://scholarworks.korea.ac.kr/kumedicine/handle/2020.sw.kumedicine/54994
DOI
10.3389/fphar.2021.758830
ISSN
1663-9812
Abstract
A microsatellite instability (MSI) test is crucial for screening for HNPCC (Hereditary nonpolyposis colorectal cancer; Lynch syndrome) and optimization of colorectal cancer (CRC) treatment. Mismatch repair (MMR) deficiency is a predictor for good response of immune checkpoint inhibitors in various malignancies. In this study, we evaluated the results of a newly developed plasma-based real-time PCR kit for the detection of MSI in CRC patients. We assessed a peptide nucleotide acid (PNA) probe-mediated real-time PCR test (U-TOP MSI Detection Kit Plus) that determines MSI status by using amplicon melting analysis of five markers (NR21, NR24, NR27, BAT25, and BAT26) from plasma. Eighty-four CRC patients (46 dMMR and 38 pMMR) with colorectal cancer were analyzed. The concordance rate of MSI status assessment between the plasma kit and IHC was 63.0% in dMMR patients (29/46), but in the pMMR evaluation, a 100% (38/38) concordance rate was observed. In the evaluation of the performance of a custom tissue U-TOP MSI Detection Kit and plasma kit in 28 patients, sensitivity, specificity, PPV (positive predictive value) and NPV (negative predictive value) of plasma kit were 68.4, 100, 100, and 44.4%, respectively, with the tissue U-TOP MSI Detection Kit. Our results demonstrate the feasibility of a non-invasive and rapid plasma-based real-time PCR kit (U-TOP MSI Detection Kit Plus) for the detection of MSI in colorectal cancer.
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2. Clinical Science > Department of Pathology > 1. Journal Articles
2. Clinical Science > Department of Colon and Rectal Surgery > 1. Journal Articles
2. Clinical Science > Department of Gastroenterology and Hepatology > 1. Journal Articles

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Kim, Seung Han
Guro Hospital (Department of Gastroenterology and Hepatology, Guro Hospital)
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