Microsatellite Instability: Laboratory Diagnostic Nuances (Position Statement of the Russian Interregional Organization of Molecular Geneticists in Oncology and Oncohematology)
Vol. 69 No. 2 (2023), EDITORIALS
Vol. 69 No. 2 (2023)

Microsatellite Instability: Laboratory Diagnostic Nuances (Position Statement of the Russian Interregional Organization of Molecular Geneticists in Oncology and Oncohematology)

EDITORIALS
https://doi.org/10.37469/0507-3758-2023-69-2-174-179
Published 30.04.2023
Irina Demidova
Moscow City Oncology Hospital No. 62
https://orcid.org/0000-0003-4971-9852
Maxim Filipenko
ICBFM SB RAS
https://orcid.org/0000-0002-8950-5368
Alexey Tsukanov
Ryzhikh National Medical Research Center of Coloproctology
https://orcid.org/0000-0001-8571-7462
Evgeny Imyanitov
N.N. Petrov National Medical Research Center of Oncology
https://orcid.org/0000-0003-4529-7891
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Keywords

microsatellite instability
DNA base repair system
genetic analysis
immunohistochemical analysis

How to Cite

Demidova, I., Filipenko, M., Tsukanov, A., & Imyanitov, E. (2023). Microsatellite Instability: Laboratory Diagnostic Nuances (Position Statement of the Russian Interregional Organization of Molecular Geneticists in Oncology and Oncohematology). Voprosy Onkologii, 69(2), 174–179. https://doi.org/10.37469/0507-3758-2023-69-2-174-179
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Abstract

Microsatellite instability (MSI) is the phenomenon of the accumulation of mutations (deletions and insertions) in short repeated sequences of DNA. The most common cause of MSI is a defect in the mismatch repair deficiency system (dMMR). MSI/dMMR analysis is utilized for the diagnosis of Lynch syndrome as well as for the selection of patients for therapy with immune checkpoint inhibitors. MSI testing involves analyzing the length of several informative microsatellite markers by PCR or NGS, while dMMR detection is based on immunohistochemical analysis of expression of 4 proteins (MLH1, MSH2, MSH6 and PMS2). These methods can be considered interchangeable in the case of colorectal cancer, so when analyzing colorectal carcinomas, the choice between MSI and dMMR testing may be determined by managerial and financial considerations. Carcinomas with low proliferative activity, including some types of tumors associated with Lynch syndrome, can demonstrate dMMR in the absence of MSI, being characterized by low mutational load and lack of sensitivity to immunotherapy. Procedures for detecting microsatellite instability in non-colorectal tumors remain insufficiently standardized and need further improvement.

https://doi.org/10.37469/0507-3758-2023-69-2-174-179
##article.numberofdownloads## 513
##article.numberofviews## 670
pdf (Русский)

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