Detecting Microsatellite Instability in Endometrial, Colon, and Stomach Cancers Using Targeted NGS

被引：2

作者：

Boyarskikh, Ulyana ^{[1
]}

Kechin, Andrey ^{[1
]}

Khrapov, Evgeniy ^{[1
]}

Fedyanin, Mikhail ^{[2
]}

Raskin, Grigory ^{[3
]}

Mukhina, Marina ^{[3
]}

Kravtsova, Elena ^{[3
]}

Tsukanov, Aleksey ^{[4
]}

Achkasov, Sergey ^{[4
]}

Filipenko, Maksim ^{[1
]}

机构：

[1] Russian Acad Sci, Inst Chem Biol & Fundamental Med, Siberian Div, Novosibirsk 630090, Russia

[2] Moscow Multidisciplinary Clin Ctr Kommunarka, State Budgetary Inst Hlth Care City Moscow, Moscow 142770, Russia

[3] Dr Berezin Med Inst, St Petersburg 197758, Russia

[4] Ryzhikh Natl Med Res Ctr Coloproctol, Moscow 123423, Russia

来源：

CANCERS | 2023年 / 15卷 / 20期

关键词：

microsatellite instability; endometrial cancers; targeted NGS; MISMATCH REPAIR; COLORECTAL-CANCER; TUMORS;

D O I：

10.3390/cancers15205065

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Purpose: To develop a method for testing the MSI based on targeted NGS. Methods: Based on the results of previous studies, 81 microsatellite loci with high variability in MSI-H tumors were selected, and a method for calculating the MSI score was developed. Using the MSI score, we defined the MSI status in endometral (162), colon (153), and stomach (190) cancers. Accuracy of the MSI scores was evaluated by comparison with MMR immunohistochemistry for 137 endometrium (63 dMMR and 74 pMMR), 76 colon (29 dMMR and 47 pMMR), and 81 stomach (8 dMMR and 73 pMMR) cancers. Results: Classification of MSS and MSI-H tumors was performed with AUC (0.99), sensitivity (92%), and specificity (98%) for all tumors without division into types. The accuracy of MSI testing in endometrial cancer was lower than for stomach and colon cancer (0.98, 87%, and 100%, respectively). The use of 27 loci only, the most informative for endometrial cancer, increased the overall accuracy (1.00, 99%, and 99%). Comparison of MSI score values in 505 tumors showed that MSI score is significantly higher in colon (p < 10(-5)) and stomach (p = 0.008) cancer compared with endometrial cancer. Conclusion: The MSI score accurately determines MSI status for endometrial, colon, and stomach cancers and can be used to quantify the degree of MSI.

引用

页数：13

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