Evaluation of 3 molecular-based assays for microsatellite instability detection in formalin-fixed tissues of patients with endometrial and colorectal cancers.
Biomarkers, Tumor
/ genetics
Colorectal Neoplasms
/ genetics
Colorectal Neoplasms, Hereditary Nonpolyposis
/ genetics
DNA Mismatch Repair
/ genetics
Endometrial Neoplasms
/ genetics
Female
Formaldehyde
/ chemistry
High-Throughput Nucleotide Sequencing
/ methods
Humans
Immunohistochemistry
/ methods
Microsatellite Instability
Patients
Polymerase Chain Reaction
/ methods
Prognosis
Sensitivity and Specificity
Tissue Fixation
/ methods
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
02 10 2020
02 10 2020
Historique:
received:
15
07
2020
accepted:
14
09
2020
entrez:
3
10
2020
pubmed:
4
10
2020
medline:
5
1
2021
Statut:
epublish
Résumé
Microsatellite instability (MSI) status is routinely assessed in patients with colorectal and endometrial cancers as it contributes to Lynch syndrome initial screening, tumour prognosis and selecting patients for immunotherapy. Currently, standard reference methods recommended for MSI/dMMR (deficient MisMatch Repair) testing consist of immunohistochemistry and pentaplex PCR-based assays, however, novel molecular-based techniques are emerging. Here, we aimed to evaluate the performance of a custom capture-based NGS method and the Bio-Rad ddPCR and Idylla approaches for the determination of MSI status for theranostic purposes in 30 formalin-fixed paraffin embedded (FFPE) tissue samples from patients with endometrial (n = 15) and colorectal (n = 15) cancers. All samples were previously characterised using IHC and Promega MSI Analysis System and these assays set as golden standard. Overall agreement, sensitivity and specificity of our custom-built NGS panel were 93.30%, 93.75% and 92.86% respectively. Overall agreement, sensitivity and specificity were 100% with the Idylla MSI system. The Bio-Rad ddPCR MSI assay showed a 100% concordance, sensitivity and specificity. The custom capture-based NGS, Bio-Rad ddPCR and Idylla approaches represent viable and complementary options to IHC and Promega MSI Analysis System for the detection of MSI. Bio-Rad ddPCR and Idylla MSI assays accounts for easy and fast screening assays while the NGS approach offers the advantages to simultaneously detect MSI and clinically relevant genomic alterations.
Identifiants
pubmed: 33009475
doi: 10.1038/s41598-020-73421-5
pii: 10.1038/s41598-020-73421-5
pmc: PMC7532161
doi:
Substances chimiques
Biomarkers, Tumor
0
Formaldehyde
1HG84L3525
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
16386Références
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