Mutation profile of diffuse large B-cell lymphoma with relapses in the central nervous system
Introduction. The recurrence of diffuse large B-cell cell lymphoma in the central nervous system in the vast majority of cases is a fatal manifestation of the disease. The study of the lymphoma mutational profile can improve the accuracy of the prognosis of relapse in the central nervous system and...
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ABV-press
2022-10-01
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| Series: | Успехи молекулярной онкологии |
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| Online Access: | https://umo.abvpress.ru/jour/article/view/460 |
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| author | E. N. Voropaeva T. I. Pospelova V. S. Karpova M. I. Churkina Yu. V. Vyatkin T. A. Ageeva V. N. Maksimov |
| author_facet | E. N. Voropaeva T. I. Pospelova V. S. Karpova M. I. Churkina Yu. V. Vyatkin T. A. Ageeva V. N. Maksimov |
| author_sort | E. N. Voropaeva |
| collection | DOAJ |
| description | Introduction. The recurrence of diffuse large B-cell cell lymphoma in the central nervous system in the vast majority of cases is a fatal manifestation of the disease. The study of the lymphoma mutational profile can improve the accuracy of the prognosis of relapse in the central nervous system and justify the selection of patients for preventive treatment. Aim. To evaluate the mutational profile of cases of diffuse large B-cell cell lymphoma with central nervous system damage in relapse based on the results of our own experiment on high-performance sequencing.Materials and methods. On the Illumina platform, full-exome sequencing of diagnostic samples of diffuse large B-cell cell lymphoma with relapses in the central nervous system was performed. A panel including more than 70 genes was analyzed.Results. Four main groups of genetic events can be distinguished in the group of studied samples, namely: combined mutations in the NF-kB (MYD88, NOTCH1, CD79B, CARD11) and JAK-STAT (PIM1, STAT6) signaling pathways, as well as aberrations in the main oncosuppressor TP53 and chromatin remodeling system genes (ARID1A, KMT2D, EP300, SMARCA4). A recurrent mutation c. 794T>C, p.L265P MYD88 was detected in the study group. Among other findings, mutations in the CIITA and CD58 genes should be noted, which are important in avoiding tumor cells from immune surveillance.Conclusion. Despite the apparent heterogeneity of the mutational profile of diffuse large B-cell cell lymphoma with relapses in the central nervous system, in most cases, tumor cells were characterized by genetic disorders leading to the production of a large number of pro-inflammatory cytokines by malignant lymphocytes, as well as aberrations that reduce immunogenicity and contribute to the avoidance of immune surveillance by the tumor. |
| format | Article |
| id | doaj-art-1bc9a84d01c44e09924c902a33000db2 |
| institution | Matheson Library |
| issn | 2313-805X 2413-3787 |
| language | Russian |
| publishDate | 2022-10-01 |
| publisher | ABV-press |
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| series | Успехи молекулярной онкологии |
| spelling | doaj-art-1bc9a84d01c44e09924c902a33000db22025-08-04T14:04:36ZrusABV-pressУспехи молекулярной онкологии2313-805X2413-37872022-10-0193698410.17650/2313-805X-2022-9-3-69-84253Mutation profile of diffuse large B-cell lymphoma with relapses in the central nervous systemE. N. Voropaeva0T. I. Pospelova1V. S. Karpova2M. I. Churkina3Yu. V. Vyatkin4T. A. Ageeva5V. N. Maksimov6Scientific Research Institute of Therapy and Preventive Medicine — branch of the Federal Research Center Institute of Cytology and Genetics of the Siberian branch of the Russian Academy of Sciences; Novosibirsk State Medical University, Ministry of Health of RussiaNovosibirsk State Medical University, Ministry of Health of RussiaNovosibirsk State Medical University, Ministry of Health of RussiaNovosibirsk State Medical University, Ministry of Health of RussiaNovosibirsk National Research State UniversityNovosibirsk State Medical University, Ministry of Health of RussiaScientific Research Institute of Therapy and Preventive Medicine — branch of the Federal Research Center Institute of Cytology and Genetics of the Siberian branch of the Russian Academy of SciencesIntroduction. The recurrence of diffuse large B-cell cell lymphoma in the central nervous system in the vast majority of cases is a fatal manifestation of the disease. The study of the lymphoma mutational profile can improve the accuracy of the prognosis of relapse in the central nervous system and justify the selection of patients for preventive treatment. Aim. To evaluate the mutational profile of cases of diffuse large B-cell cell lymphoma with central nervous system damage in relapse based on the results of our own experiment on high-performance sequencing.Materials and methods. On the Illumina platform, full-exome sequencing of diagnostic samples of diffuse large B-cell cell lymphoma with relapses in the central nervous system was performed. A panel including more than 70 genes was analyzed.Results. Four main groups of genetic events can be distinguished in the group of studied samples, namely: combined mutations in the NF-kB (MYD88, NOTCH1, CD79B, CARD11) and JAK-STAT (PIM1, STAT6) signaling pathways, as well as aberrations in the main oncosuppressor TP53 and chromatin remodeling system genes (ARID1A, KMT2D, EP300, SMARCA4). A recurrent mutation c. 794T>C, p.L265P MYD88 was detected in the study group. Among other findings, mutations in the CIITA and CD58 genes should be noted, which are important in avoiding tumor cells from immune surveillance.Conclusion. Despite the apparent heterogeneity of the mutational profile of diffuse large B-cell cell lymphoma with relapses in the central nervous system, in most cases, tumor cells were characterized by genetic disorders leading to the production of a large number of pro-inflammatory cytokines by malignant lymphocytes, as well as aberrations that reduce immunogenicity and contribute to the avoidance of immune surveillance by the tumor.https://umo.abvpress.ru/jour/article/view/460lymphomamutational profilehigh-throughput sequencingrelapsenf-kb signaling pathwayjak-stat signaling pathway<i>тр53</i> genechromatin remodelingimmunological controldiffuse large b-cell lymphomacentral nervous system |
| spellingShingle | E. N. Voropaeva T. I. Pospelova V. S. Karpova M. I. Churkina Yu. V. Vyatkin T. A. Ageeva V. N. Maksimov Mutation profile of diffuse large B-cell lymphoma with relapses in the central nervous system Успехи молекулярной онкологии lymphoma mutational profile high-throughput sequencing relapse nf-kb signaling pathway jak-stat signaling pathway <i>тр53</i> gene chromatin remodeling immunological control diffuse large b-cell lymphoma central nervous system |
| title | Mutation profile of diffuse large B-cell lymphoma with relapses in the central nervous system |
| title_full | Mutation profile of diffuse large B-cell lymphoma with relapses in the central nervous system |
| title_fullStr | Mutation profile of diffuse large B-cell lymphoma with relapses in the central nervous system |
| title_full_unstemmed | Mutation profile of diffuse large B-cell lymphoma with relapses in the central nervous system |
| title_short | Mutation profile of diffuse large B-cell lymphoma with relapses in the central nervous system |
| title_sort | mutation profile of diffuse large b cell lymphoma with relapses in the central nervous system |
| topic | lymphoma mutational profile high-throughput sequencing relapse nf-kb signaling pathway jak-stat signaling pathway <i>тр53</i> gene chromatin remodeling immunological control diffuse large b-cell lymphoma central nervous system |
| url | https://umo.abvpress.ru/jour/article/view/460 |
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