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Testing for lynch syndrome in people with endometrial cancer using immunohistochemistry and microsatellite instability-based testing strategies – a systematic review of test accuracy
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Stinton, Chris, Fraser, Hannah, Al-Khudairy, Lena, Court, Rachel A., Jordan, Mary, Grammatopoulos, Dimitris and Taylor-Phillips, Sian (2021) Testing for lynch syndrome in people with endometrial cancer using immunohistochemistry and microsatellite instability-based testing strategies – a systematic review of test accuracy. Gynecologic Oncology, 160 (1). pp. 148-160. doi:10.1016/j.ygyno.2020.10.003
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Official URL: https://doi.org/10.1016/j.ygyno.2020.10.003
Abstract
Background
Lynch syndrome is an inherited genetic condition that is associated with an increased risk of cancer, including endometrial and colorectal cancer. We assessed the test accuracy of immunohistochemistry and microsatellite instability-based testing (with or without MLH1 promoter methylation testing) for Lynch syndrome in women with endometrial cancer.
Methods
We conducted a systematic review of literature published up to August 2019. We searched bibliographic databases, contacted experts and checked reference lists of relevant studies. Two reviewers conducted each stage of the review.
Results
Thirteen studies were identified that included approximately 3500 participants. None of the studies was at low risk of bias in all domains. Data could not be pooled due to the small number of heterogeneous studies. Sensitivity ranged from 60.7–100% for immunohistochemistry, 41.7–100% for microsatellite instability-based testing, and 90.5–100% for studies combining immunohistochemistry, microsatellite instability-based testing, and MLH1 promoter methylation testing. Specificity ranged from 60.9–83.3% (excluding 1 study with highly selective inclusion criteria) for immunohistochemistry, 69.2–89.9% for microsatellite instability-based testing, and 72.4–92.3% (excluding 1 study with highly selective inclusion criteria) for testing strategies that included immunohistochemistry, microsatellite instability-based testing, and MLH1 promoter methylation. We found no statistically significant differences in test accuracy estimates (sensitivity, specificity) in head-to-head studies of immunohistochemistry versus microsatellite instability-based testing. Reported test failures were rare.
Conclusions
Sensitivity of the index tests were generally high, though most studies had much lower specificity. We found no evidence that test accuracy differed between IHC and MSI based strategies. The evidence base is currently small and at high risk of bias.
| Item Type: | Journal Article | |||||||||
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| Subjects: | Q Science > QH Natural history R Medicine > RB Pathology R Medicine > RC Internal medicine |
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| Divisions: | Faculty of Medicine > Warwick Medical School | |||||||||
| SWORD Depositor: | Library Publications Router | |||||||||
| Library of Congress Subject Headings (LCSH): | Colon (Anatomy) -- Cancer -- Genetic aspects, Rectum -- Cancer -- Genetic aspects, Endometrium -- Cancer -- Diagnosis, Immunohistochemistry , Microsatellites (Genetics) | |||||||||
| Journal or Publication Title: | Gynecologic Oncology | |||||||||
| Publisher: | Academic Press | |||||||||
| ISSN: | 0090-8258 | |||||||||
| Official Date: | 1 January 2021 | |||||||||
| Dates: |
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| Volume: | 160 | |||||||||
| Number: | 1 | |||||||||
| Page Range: | pp. 148-160 | |||||||||
| DOI: | 10.1016/j.ygyno.2020.10.003 | |||||||||
| Status: | Peer Reviewed | |||||||||
| Publication Status: | Published | |||||||||
| Access rights to Published version: | Open Access | |||||||||
| RIOXX Funder/Project Grant: |
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