Comparison of Methods for Testing Mismatch Repair Status in Endometrial Cancer
Abstract
:1. Introduction
2. Results
2.1. Sample Selection and Initial Screening
2.2. Descriptive Results
2.2.1. MMR Loss of Expression Based on IHC
2.2.2. MSI Status Based on MS PCR
2.2.3. MMR Genomic Status
2.3. Comparisons
2.3.1. IHC: Consideration of Two Markers and Inclusion of MSH3, versus Four Markers
2.3.2. MMR Genomic Status Compared with IHC Results
2.3.3. MS PCR-Based Status Compared with IHC Results
2.3.4. MSI PCR-Based Status Compared with MMR Genomic Status
2.3.5. Overall Comparisons
3. Discussion
4. Materials and Methods
4.1. Patients and Samples
4.2. Immunohistochemistry
4.3. DNA Extraction
4.4. MSI Testing
4.5. Next-Generation Sequencing
4.6. MLH1 Promoter Hypermethylation
4.7. Statistical Analysis
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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(a) | |||||
MMR Genomic Status | |||||
Altered | No | Total | |||
IHC | dMMR | 46 | 21 | 67 | |
pMMR | 9 | 48 | 57 | ||
Total | 55 | 69 | 124 | ||
(b) | |||||
PCR | |||||
MSI-H | MSI-L | MSS | Total | ||
IHC | dMMR | 22 | 7 | 34 | 63 |
pMMR | 3 | 3 | 45 | 51 | |
Total | 25 | 10 | 79 | 114 | |
(c) | |||||
PCR | |||||
MSI-H | MSI-L | MSS | Total | ||
MMR genomic status | Altered | 24 | 7 | 18 | 49 |
No | 1 | 3 | 59 | 63 | |
Total | 25 | 10 | 77 | 112 |
Reference Variable | Response Variable | Sensibility (%) | Specificity (%) | Total Proportion of Correct Classifications (%) |
---|---|---|---|---|
IHC | Genomic status | 83.6 | 69.6 | 75.8 |
PCR (MSS + MSI-L/MSI-H) | 88.0 | 53.9 | 61.4 | |
PCR (MSS/MSI-L + MSI-H) | 82.9 | 57.0 | 64.9 | |
Genomic status | IHC | 68.7 | 84.2 | 75.8 |
PCR (MSS + MSI-L/MSI-H) | 96.0 | 71.3 | 76.8 | |
PCR (MSS/MSI-L + MSI-H) | 88.6 | 76.6 | 80.4 |
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Mendiola, M.; Heredia-Soto, V.; Ruz-Caracuel, I.; Baillo, A.; Ramon-Patino, J.L.; Escudero, F.J.; Miguel, M.; Pelaez-Garcia, A.; Hernandez, A.; Feliu, J.; et al. Comparison of Methods for Testing Mismatch Repair Status in Endometrial Cancer. Int. J. Mol. Sci. 2023, 24, 14468. https://doi.org/10.3390/ijms241914468
Mendiola M, Heredia-Soto V, Ruz-Caracuel I, Baillo A, Ramon-Patino JL, Escudero FJ, Miguel M, Pelaez-Garcia A, Hernandez A, Feliu J, et al. Comparison of Methods for Testing Mismatch Repair Status in Endometrial Cancer. International Journal of Molecular Sciences. 2023; 24(19):14468. https://doi.org/10.3390/ijms241914468
Chicago/Turabian StyleMendiola, Marta, Victoria Heredia-Soto, Ignacio Ruz-Caracuel, Amparo Baillo, Jorge Luis Ramon-Patino, Francisco Javier Escudero, Maria Miguel, Alberto Pelaez-Garcia, Alicia Hernandez, Jaime Feliu, and et al. 2023. "Comparison of Methods for Testing Mismatch Repair Status in Endometrial Cancer" International Journal of Molecular Sciences 24, no. 19: 14468. https://doi.org/10.3390/ijms241914468