Dynamics of blood microsatellite instability (bMSI) burden predicts outcome of a patient treated with immune checkpoint inhibitors: a case report of hyperprogressive disease

Microsatellite instability (MSI) is a widely studied molecular signature, which is associated with long-term benefit in patients treated with immune checkpoint inhibitor therapy. This approach has been proven to be effective in the treatment of patients with MSI-positive colorectal cancer (CRC). Analysis of serial liquid biopsy samples allows to detect changes in the tumor in response to therapy. Typically, somatic mutations are used for tracing the dynamics of the tumor, and the assessment of DNA signatures such as MSI is not currently used for these purposes. Here, we describe a case of a MSI-positive CRC, who received nivolumab monotherapy. Sequential sampling of the patient's plasma demonstrated an increase in MSI burden (bMSI), which was found to correlate with the increase of driver mutation burden one month after starting nivolumab, and hyperprogressive disease. Thus, analysis of bMSI in liquid biopsy via NGS may be a promising method for timely assessment of the treatment effectiveness received by patients with MSI-positive CRC.

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Publication Details

Journal
Frontiers in Immunology
Published
2025-02-05
DOI
https://doi.org/10.3389/fimmu.2025.1492296
Primary Topic
Genetic factors in colorectal cancer
Type
article
Field-Weighted Citation Impact
0.00

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article

Dynamics of blood microsatellite instability (bMSI) burden predicts outcome of a patient treated with immune checkpoint inhibitors: a case report of hyperprogressive disease

Alexandra Kavun, Vladislav Mileyko, Olesya Kuznetsova, A. Tryakin et al.
Frontiers in Immunology
Genetic factors in colorectal cancer
article

Dynamics of blood microsatellite instability (bMSI) burden predicts outcome of a patient treated with immune checkpoint inhibitors: a case report of hyperprogressive disease

Alexandra Kavun, Vladislav Mileyko, Olesya Kuznetsova, A. Tryakin, Egor Veselovsky, Anastasiia Taraskina, Tatiana Grigoreva, Alexandra Lebedeva, М. Yu. Fedyanin, Ekaterina Belova, Maxim Ivanov, Lidia Nekrasova, Daria Kravchuk, Vladislav Nikulin
article en

Abstract

Microsatellite instability (MSI) is a widely studied molecular signature, which is associated with long-term benefit in patients treated with immune checkpoint inhibitor therapy. This approach has been proven to be effective in the treatment of patients with MSI-positive colorectal cancer (CRC). Analysis of serial liquid biopsy samples allows to detect changes in the tumor in response to therapy. Typically, somatic mutations are used for tracing the dynamics of the tumor, and the assessment of DNA signatures such as MSI is not currently used for these purposes. Here, we describe a case of a MSI-positive CRC, who received nivolumab monotherapy. Sequential sampling of the patient's plasma demonstrated an increase in MSI burden (bMSI), which was found to correlate with the increase of driver mutation burden one month after starting nivolumab, and hyperprogressive disease. Thus, analysis of bMSI in liquid biopsy via NGS may be a promising method for timely assessment of the treatment effectiveness received by patients with MSI-positive CRC.

Frontiers in ImmunologyVol. 16
Sechenov University (RU), Lomonosov Moscow State University (RU), Russian Cancer Research Center NN Blokhin (RU), National Medical and Surgical Center named after N.I. Pirogov (RU), Ministry of Health of the Russian Federation (RU), P.A. Hertzen Moscow Oncology Research Institute (RU), Federal State Budgetary Institution "Center for Expertise and Quality Control of Medical Care" (RU)
Russian Science Foundation
Good health and well-being
Openalex Percentile: Top 97%
Genetic factors in colorectal cancer
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