Microsatellite Instability Analysis (MSA) for Bladder Cancer: Past History and Future Directions
Microsatellite instability (MSI), the spontaneous loss or gain of nucleotides from repetitive DNA tracts, is a diagnostic phenotype for gastrointestinal, endometrial, colorectal, and bladder cancers; yet a landscape of instability events across a wider variety of cancer types is beginning to be disc...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-11-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/23/12864 |
| _version_ | 1797507760652288000 |
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| author | Chulso Moon Maxie Gordon David Moon Thomas Reynolds |
| author_facet | Chulso Moon Maxie Gordon David Moon Thomas Reynolds |
| author_sort | Chulso Moon |
| collection | DOAJ |
| description | Microsatellite instability (MSI), the spontaneous loss or gain of nucleotides from repetitive DNA tracts, is a diagnostic phenotype for gastrointestinal, endometrial, colorectal, and bladder cancers; yet a landscape of instability events across a wider variety of cancer types is beginning to be discovered. The epigenetic inactivation of the MLH1 gene is often associated with sporadic MSI cancers. Recent next-generation sequencing (NGS)-based analyses have comprehensively characterized MSI-positive (MSI+) cancers, and several approaches to the detection of the MSI phenotype of tumors using NGS have been developed. Bladder cancer (here we refer to transitional carcinoma of the bladder) is a major cause of morbidity and mortality in the Western world. Cystoscopy, a gold standard for the detection of bladder cancer, is invasive and sometimes carries unwanted complications, while its cost is relatively high. Urine cytology is of limited value due to its low sensitivity, particularly to low-grade tumors. Therefore, over the last two decades, several new “molecular assays” for the diagnosis of urothelial cancer have been developed. Here, we provide an update on the development of a microsatellite instability assay (MSA) and the development of MSA associated with bladder cancers, focusing on findings obtained from urine analysis from bladder cancer patients as compared with individuals without bladder cancer. In our review, based on over 18 publications with approximately 900 sample cohorts, we provide the sensitivity (87% to 90%) and specificity (94% to 98%) of MSA. We also provide a comparative analysis between MSA and other assays, as well as discussing the details of four different FDA-approved assays. We conclude that MSA is a potentially powerful test for bladder cancer detection and may improve the quality of life of bladder cancer patients. |
| first_indexed | 2024-03-10T04:53:02Z |
| format | Article |
| id | doaj.art-267ea490f5be4c3581f665e1fb52da53 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T04:53:02Z |
| publishDate | 2021-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-267ea490f5be4c3581f665e1fb52da532023-11-23T02:29:21ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-11-0122231286410.3390/ijms222312864Microsatellite Instability Analysis (MSA) for Bladder Cancer: Past History and Future DirectionsChulso Moon0Maxie Gordon1David Moon2Thomas Reynolds3Department of Otolaryngology-Head and Neck Surgery, The Johns Hopkins Medical Institution, Cancer Research Building II, 5M3, 1550 Orleans Street, Baltimore, MD 21205, USAHJM Cancer Research Foundation Corporation, 10606 Candlewick Road, Lutherville, MD 21093, USAHJM Cancer Research Foundation Corporation, 10606 Candlewick Road, Lutherville, MD 21093, USANEXT Bio-Research Services, LLC, 11601 Ironbridge Road, Suite 101, Chester, VA 23831, USAMicrosatellite instability (MSI), the spontaneous loss or gain of nucleotides from repetitive DNA tracts, is a diagnostic phenotype for gastrointestinal, endometrial, colorectal, and bladder cancers; yet a landscape of instability events across a wider variety of cancer types is beginning to be discovered. The epigenetic inactivation of the MLH1 gene is often associated with sporadic MSI cancers. Recent next-generation sequencing (NGS)-based analyses have comprehensively characterized MSI-positive (MSI+) cancers, and several approaches to the detection of the MSI phenotype of tumors using NGS have been developed. Bladder cancer (here we refer to transitional carcinoma of the bladder) is a major cause of morbidity and mortality in the Western world. Cystoscopy, a gold standard for the detection of bladder cancer, is invasive and sometimes carries unwanted complications, while its cost is relatively high. Urine cytology is of limited value due to its low sensitivity, particularly to low-grade tumors. Therefore, over the last two decades, several new “molecular assays” for the diagnosis of urothelial cancer have been developed. Here, we provide an update on the development of a microsatellite instability assay (MSA) and the development of MSA associated with bladder cancers, focusing on findings obtained from urine analysis from bladder cancer patients as compared with individuals without bladder cancer. In our review, based on over 18 publications with approximately 900 sample cohorts, we provide the sensitivity (87% to 90%) and specificity (94% to 98%) of MSA. We also provide a comparative analysis between MSA and other assays, as well as discussing the details of four different FDA-approved assays. We conclude that MSA is a potentially powerful test for bladder cancer detection and may improve the quality of life of bladder cancer patients.https://www.mdpi.com/1422-0067/22/23/12864bladder cancermicrosatellitemolecular diagnostics |
| spellingShingle | Chulso Moon Maxie Gordon David Moon Thomas Reynolds Microsatellite Instability Analysis (MSA) for Bladder Cancer: Past History and Future Directions International Journal of Molecular Sciences bladder cancer microsatellite molecular diagnostics |
| title | Microsatellite Instability Analysis (MSA) for Bladder Cancer: Past History and Future Directions |
| title_full | Microsatellite Instability Analysis (MSA) for Bladder Cancer: Past History and Future Directions |
| title_fullStr | Microsatellite Instability Analysis (MSA) for Bladder Cancer: Past History and Future Directions |
| title_full_unstemmed | Microsatellite Instability Analysis (MSA) for Bladder Cancer: Past History and Future Directions |
| title_short | Microsatellite Instability Analysis (MSA) for Bladder Cancer: Past History and Future Directions |
| title_sort | microsatellite instability analysis msa for bladder cancer past history and future directions |
| topic | bladder cancer microsatellite molecular diagnostics |
| url | https://www.mdpi.com/1422-0067/22/23/12864 |
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