Evaluation of Microsatellite Instability Molecular Analysis versus Immuno-Histochemical Interpretation in Malignant Neoplasms with Different Localizations
MMR gene germline mutations are considered a major genetic disorder in patients with hereditary nonpolyposis colon cancer (HNPCC) or Lynch syndrome; A total of 15% of sporadic colon carcinomas are MSI-High. MSI has also been observed in other cancers, such as endometrial, gastric, and ovarian cancer...
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MDPI AG
2023-01-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/15/2/353 |
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| author | Maria Sfakianaki Maria Tzardi Konstantina Tsantaki Chara Koutoulaki Ippokratis Messaritakis Galateia Datseri Eleni Moustou Dimitrios Mavroudis John Souglakos |
| author_facet | Maria Sfakianaki Maria Tzardi Konstantina Tsantaki Chara Koutoulaki Ippokratis Messaritakis Galateia Datseri Eleni Moustou Dimitrios Mavroudis John Souglakos |
| author_sort | Maria Sfakianaki |
| collection | DOAJ |
| description | MMR gene germline mutations are considered a major genetic disorder in patients with hereditary nonpolyposis colon cancer (HNPCC) or Lynch syndrome; A total of 15% of sporadic colon carcinomas are MSI-High. MSI has also been observed in other cancers, such as endometrial, gastric, and ovarian cancer. The aim of the current study was to correlate and outline the optimal method between the molecular testing of the instability of microsatellite DNA regions (MSI status) and the loss of protein expression by immunehistochemistry (MMR). A total of 242 paraffin-embedded tissues from gastrointestinal, gynecological, genitourinary, lung, breast, and unknown primary cancer patients were analyzed for the expression of <i>MLH1</i>/<i>MSH2</i>/<i>MSH6</i>/<i>PMS2</i> by immunohistochemistry, as well as for the molecular analysis of MSI status using PCR-based molecular fragment analysis. A total of 29 MSI-High patients were detected molecularly, while 23 patients were detected by immunohistochemistry, with rates that are comparable according to the literature. Based on the agreement coefficient of the two methods, a substantial agreement emerged (Kappa = 0.675 with standard error = 0.081, <i>p</i> < 0.001). Despite the substantial agreement, both methods ought to be established to determine MSI-H/dMMR status in all cancer types as a first-line screening test. |
| first_indexed | 2024-03-09T13:18:52Z |
| format | Article |
| id | doaj.art-d2d43ff42c3049eeb9651b7e4fded5a5 |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-09T13:18:52Z |
| publishDate | 2023-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-d2d43ff42c3049eeb9651b7e4fded5a52023-11-30T21:32:41ZengMDPI AGCancers2072-66942023-01-0115235310.3390/cancers15020353Evaluation of Microsatellite Instability Molecular Analysis versus Immuno-Histochemical Interpretation in Malignant Neoplasms with Different LocalizationsMaria Sfakianaki0Maria Tzardi1Konstantina Tsantaki2Chara Koutoulaki3Ippokratis Messaritakis4Galateia Datseri5Eleni Moustou6Dimitrios Mavroudis7John Souglakos8Laboratory of Translational Oncology, School of Medicine, University of Crete, 71003 Heraklion, GreeceDepartment of Pathology, University General Hospital of Heraklion, 71110 Heraklion, GreeceLaboratory of Translational Oncology, School of Medicine, University of Crete, 71003 Heraklion, GreeceLaboratory of Translational Oncology, School of Medicine, University of Crete, 71003 Heraklion, GreeceLaboratory of Translational Oncology, School of Medicine, University of Crete, 71003 Heraklion, GreeceDepartment of Pathology, University General Hospital of Heraklion, 71110 Heraklion, GreeceDepartment of Pathology, University General Hospital of Heraklion, 71110 Heraklion, GreeceLaboratory of Translational Oncology, School of Medicine, University of Crete, 71003 Heraklion, GreeceLaboratory of Translational Oncology, School of Medicine, University of Crete, 71003 Heraklion, GreeceMMR gene germline mutations are considered a major genetic disorder in patients with hereditary nonpolyposis colon cancer (HNPCC) or Lynch syndrome; A total of 15% of sporadic colon carcinomas are MSI-High. MSI has also been observed in other cancers, such as endometrial, gastric, and ovarian cancer. The aim of the current study was to correlate and outline the optimal method between the molecular testing of the instability of microsatellite DNA regions (MSI status) and the loss of protein expression by immunehistochemistry (MMR). A total of 242 paraffin-embedded tissues from gastrointestinal, gynecological, genitourinary, lung, breast, and unknown primary cancer patients were analyzed for the expression of <i>MLH1</i>/<i>MSH2</i>/<i>MSH6</i>/<i>PMS2</i> by immunohistochemistry, as well as for the molecular analysis of MSI status using PCR-based molecular fragment analysis. A total of 29 MSI-High patients were detected molecularly, while 23 patients were detected by immunohistochemistry, with rates that are comparable according to the literature. Based on the agreement coefficient of the two methods, a substantial agreement emerged (Kappa = 0.675 with standard error = 0.081, <i>p</i> < 0.001). Despite the substantial agreement, both methods ought to be established to determine MSI-H/dMMR status in all cancer types as a first-line screening test.https://www.mdpi.com/2072-6694/15/2/353microsatellite instabilitycolorectal cancerMMR proteinsfragment analysis<i>MSH2</i><i>MLH1</i> |
| spellingShingle | Maria Sfakianaki Maria Tzardi Konstantina Tsantaki Chara Koutoulaki Ippokratis Messaritakis Galateia Datseri Eleni Moustou Dimitrios Mavroudis John Souglakos Evaluation of Microsatellite Instability Molecular Analysis versus Immuno-Histochemical Interpretation in Malignant Neoplasms with Different Localizations Cancers microsatellite instability colorectal cancer MMR proteins fragment analysis <i>MSH2</i> <i>MLH1</i> |
| title | Evaluation of Microsatellite Instability Molecular Analysis versus Immuno-Histochemical Interpretation in Malignant Neoplasms with Different Localizations |
| title_full | Evaluation of Microsatellite Instability Molecular Analysis versus Immuno-Histochemical Interpretation in Malignant Neoplasms with Different Localizations |
| title_fullStr | Evaluation of Microsatellite Instability Molecular Analysis versus Immuno-Histochemical Interpretation in Malignant Neoplasms with Different Localizations |
| title_full_unstemmed | Evaluation of Microsatellite Instability Molecular Analysis versus Immuno-Histochemical Interpretation in Malignant Neoplasms with Different Localizations |
| title_short | Evaluation of Microsatellite Instability Molecular Analysis versus Immuno-Histochemical Interpretation in Malignant Neoplasms with Different Localizations |
| title_sort | evaluation of microsatellite instability molecular analysis versus immuno histochemical interpretation in malignant neoplasms with different localizations |
| topic | microsatellite instability colorectal cancer MMR proteins fragment analysis <i>MSH2</i> <i>MLH1</i> |
| url | https://www.mdpi.com/2072-6694/15/2/353 |
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