Microsatellite instability and mismatch repair protein deficiency: equal predictive markers?

被引:9
作者
Nadorvari, Maja L. [1 ]
Lotz, Gabor [1 ]
Kulka, Janina [1 ]
Kiss, Andras [1 ]
Timar, Jozsef [1 ]
机构
[1] Semmelweis Univ, Dept Pathol Forens & Insurance Med, Budapest, Hungary
关键词
mismatch repair deficiency; microsatellite instability; immunohistochemistry; molecular testing; cancer; OF-AMERICAN-PATHOLOGISTS; TUMOR MUTATIONAL BURDEN; COLORECTAL-CANCER; MOLECULAR PATHOLOGY; ENDOMETRIAL CANCER; LYNCH SYNDROME; IMMUNOHISTOCHEMISTRY; ASSOCIATION; CONCORDANCE; EXPRESSION;
D O I
10.3389/pore.2024.1611719
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Current clinical guidelines recommend mismatch repair (MMR) protein immunohistochemistry (IHC) or molecular microsatellite instability (MSI) tests as predictive markers of immunotherapies. Most of the pathological guidelines consider MMR protein IHC as the gold standard test to identify cancers with MMR deficiency and recommend molecular MSI tests only in special circumstances or to screen for Lynch syndrome. However, there are data in the literature which suggest that the two test types may not be equal. For example, molecular epidemiology studies reported different rates of deficient MMR (dMMR) and MSI in various cancer types. Additionally, direct comparisons of the two tests revealed relatively frequent discrepancies between MMR IHC and MSI tests, especially in non-colorectal and non-endometrial cancers and in cases with unusual dMMR phenotypes. There are also scattered clinical data showing that the efficacy of immune checkpoint inhibitors is different if the patient selection was based on dMMR versus MSI status of the cancers. All these observations question the current dogma that dMMR phenotype and genetic MSI status are equal predictive markers of the immunotherapies.
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页数:12
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