DNA Mismatch Repair Deficiency Detection in Colorectal Cancer by a New Microsatellite Instability Analysis System.
Adult
Aged
Brain Neoplasms
/ diagnosis
Colorectal Neoplasms
/ diagnosis
Computational Biology
/ methods
DNA
DNA Mismatch Repair
Female
High-Throughput Nucleotide Sequencing
Humans
Male
Microsatellite Instability
Microsatellite Repeats
Middle Aged
Neoplastic Syndromes, Hereditary
/ diagnosis
Phenotype
Sensitivity and Specificity
Colorectal cancer
Microsatellite instability
Mismatch repair deficiency
Journal
Interdisciplinary sciences, computational life sciences
ISSN: 1867-1462
Titre abrégé: Interdiscip Sci
Pays: Germany
ID NLM: 101515919
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
16
07
2019
accepted:
07
01
2020
revised:
05
01
2020
pubmed:
27
1
2020
medline:
10
3
2021
entrez:
27
1
2020
Statut:
ppublish
Résumé
Although microsatellite instability (MSI) is most commonly detected in colorectal cancer (CRC), improvement in MSI analysis method can always help us better assessing MSI phenotypes and gaining useful information in challenging cases. The purpose of current study is to explore whether the ProDx® MSI analysis System (ProDx® MSI) can improve MSI classification in CRC. We compared the MSI profiles of 97 FFPE samples from CRC patients by ProDx® MSI with Promega MSI analysis System 1.2 and NCI panel. The result is then confirmed by IHC test, which evaluate MMR protein expression. Furthermore, next generation sequencing was performed to double confirm the specimens with discordant results. Among the total 97 CRC cases, 35 were scored as MSI-High by ProDx® MSI, Promega MSI analysis System 1.2, and NCI panel simultaneously. Three extra MSI-High cases were identified by ProDx® MSI. These three cases were classified as MSI-Low by NCI panel, while two of these as MSI-Low, and 1 as MSS by Promega MSI analysis System 1.2. ProDx® MSI had higher concordance with IHC detection compared with Promega MSI Analysis System 1.2 and NCI panel at 99.0%, 96.9%, and 95.9%, respectively. The ProDx® MSI distinguished MSI status with 100% sensitivity and 98.4% specificity. Our data showed that MSI-High phenotype occurred most frequently in tumor development stage I and stage II. The colorectal cancer can be classified according to MSI status accurately by ProDx® MSI. More cases with MSI-High feature may be revealed by ProDx® MSI than by previous test systems in colorectal cancer.
Sections du résumé
BACKGROUND
BACKGROUND
Although microsatellite instability (MSI) is most commonly detected in colorectal cancer (CRC), improvement in MSI analysis method can always help us better assessing MSI phenotypes and gaining useful information in challenging cases. The purpose of current study is to explore whether the ProDx® MSI analysis System (ProDx® MSI) can improve MSI classification in CRC.
METHODS
METHODS
We compared the MSI profiles of 97 FFPE samples from CRC patients by ProDx® MSI with Promega MSI analysis System 1.2 and NCI panel. The result is then confirmed by IHC test, which evaluate MMR protein expression. Furthermore, next generation sequencing was performed to double confirm the specimens with discordant results.
RESULTS
RESULTS
Among the total 97 CRC cases, 35 were scored as MSI-High by ProDx® MSI, Promega MSI analysis System 1.2, and NCI panel simultaneously. Three extra MSI-High cases were identified by ProDx® MSI. These three cases were classified as MSI-Low by NCI panel, while two of these as MSI-Low, and 1 as MSS by Promega MSI analysis System 1.2. ProDx® MSI had higher concordance with IHC detection compared with Promega MSI Analysis System 1.2 and NCI panel at 99.0%, 96.9%, and 95.9%, respectively. The ProDx® MSI distinguished MSI status with 100% sensitivity and 98.4% specificity. Our data showed that MSI-High phenotype occurred most frequently in tumor development stage I and stage II.
CONCLUSIONS
CONCLUSIONS
The colorectal cancer can be classified according to MSI status accurately by ProDx® MSI. More cases with MSI-High feature may be revealed by ProDx® MSI than by previous test systems in colorectal cancer.
Identifiants
pubmed: 31983041
doi: 10.1007/s12539-020-00358-8
pii: 10.1007/s12539-020-00358-8
pmc: PMC7244613
doi:
Substances chimiques
DNA
9007-49-2
Types de publication
Evaluation Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
145-154Subventions
Organisme : The National Key Research and Development Program of China
ID : 2017YFC1309004
Organisme : CAMS Initiative for Innovative Medicine
ID : 2017-I2M-1-005
Organisme : CAMS Innovation Fund for Medical Sciences
ID : 2019-I2M-2-002
Organisme : Pathology Research Centre of the China Academy of Medical Sciences(CAMS)
ID : 2016ZX310176-2
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