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An Innovative and Accurate Next-Generation Sequencing-Based Microsatellite Instability Detection Method for Colorectal and Endometrial Tumors.
- Source :
-
Laboratory investigation; a journal of technical methods and pathology [Lab Invest] 2024 Feb; Vol. 104 (2), pp. 100297. Date of Electronic Publication: 2023 Nov 25. - Publication Year :
- 2024
-
Abstract
- The detection of microsatellite instability (MSI) and mismatch repair (MMR) deficiency has become mandatory for most tumors in recent years, owing to the development of immune checkpoint inhibitors as a highly effective therapy for MMR deficiency/MSI tumors. The timely and efficient detection of MSI is valuable, and new methods are increasingly being developed. To date, MMR assessment has been performed using immunohistochemistry of the 4 MMR proteins and/or microsatellite stability/MSI using PCR, mostly using the pentaplex panel. The implementation of next-generation sequencing (NGS) for MSI analysis would improve the effectiveness at a lower cost and in less time. This study describes the development of 8 new microsatellites combined with a classification algorithm, termed "Octaplex CaBio-MSID" (for Cancérologie Biologique MSI Detection tool), to assess MSI using NGS. A series of 303 colorectal cancer and 88 endometrial cancer samples were assessed via MSI testing using NGS using the Octaplex CaBio-MSID algorithm. The sensitivity and specificity of Octaplex CaBio-MSID were 98.4% and 98.4% for colorectal cancers, and 89.3% and 100% for endometrial cancers, respectively. This new NGS-based MSI detection method outperforms previously published methods (ie, Idylla [Biocartis], OncoMate MSI Dx [Promega], and Foundation One CDx [Roche Foundation Medicine]). Although highly efficient, Octaplex CaBio-MSID requires validation in a larger independent series of different tumor types.<br /> (Copyright © 2023. Published by Elsevier Inc.)
- Subjects :
- Female
Humans
Microsatellite Instability
DNA Mismatch Repair genetics
High-Throughput Nucleotide Sequencing methods
Colorectal Neoplasms diagnosis
Colorectal Neoplasms genetics
Colorectal Neoplasms pathology
Endometrial Neoplasms diagnosis
Endometrial Neoplasms genetics
Brain Neoplasms
Neoplastic Syndromes, Hereditary
Subjects
Details
- Language :
- English
- ISSN :
- 1530-0307
- Volume :
- 104
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Laboratory investigation; a journal of technical methods and pathology
- Publication Type :
- Academic Journal
- Accession number :
- 38008183
- Full Text :
- https://doi.org/10.1016/j.labinv.2023.100297