Primary mediastinal large B-cell lymphoma with a rare <i>ALK</i> gene mutation
Introduction. Primary mediastinal large B-cell lymphoma is an aggressive variant of lymphoma characterized by genetic heterogeneity. First-time therapy for primary mediastinal large B-cell lymphoma usually includes immunochemotherapy. However, a substantial proportion of patients do not respond to t...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2022-06-01
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| Series: | Успехи молекулярной онкологии |
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| Online Access: | https://umo.abvpress.ru/jour/article/view/444 |
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| author | O. I. Kit I. A. Kamaeva I. B. Lysenko I. A. Novikova N. N. Timoshkina N. V. Nikolaeva Ya. S. Gaisultanova N. Yu. Khamaneva A. A. Pushkin |
| author_facet | O. I. Kit I. A. Kamaeva I. B. Lysenko I. A. Novikova N. N. Timoshkina N. V. Nikolaeva Ya. S. Gaisultanova N. Yu. Khamaneva A. A. Pushkin |
| author_sort | O. I. Kit |
| collection | DOAJ |
| description | Introduction. Primary mediastinal large B-cell lymphoma is an aggressive variant of lymphoma characterized by genetic heterogeneity. First-time therapy for primary mediastinal large B-cell lymphoma usually includes immunochemotherapy. However, a substantial proportion of patients do not respond to this therapy.Objective – to analyze clinical characteristics of primary refractory primary mediastinal large B-cell lymphoma taking into account the results of targeted next-generation sequencing (NGS).Materials and methods. A 22‑year-old patient with primary mediastinal large B-cell lymphoma who had not responded to immunochemotherapy was tested using targeted NGS for 77 genes.Results. We identified 2 rare mutations in the ALK gene with an unclear clinical value. According to the literature, these mutations are primarily found in solid tumors.Conclusion. Missense mutations identified in the ALK gene are presumably associated with the course of primary mediastinal large B-cell lymphoma, in particular, with primary refractory disease. |
| format | Article |
| id | doaj-art-a5b121f9252649b4a33dec29b054d176 |
| institution | DOAJ |
| issn | 2313-805X 2413-3787 |
| language | Russian |
| publishDate | 2022-06-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Успехи молекулярной онкологии |
| spelling | doaj-art-a5b121f9252649b4a33dec29b054d1762025-08-20T03:22:00ZrusABV-pressУспехи молекулярной онкологии2313-805X2413-37872022-06-019210511010.17650/2313-805X-2022-9-2-105-110246Primary mediastinal large B-cell lymphoma with a rare <i>ALK</i> gene mutationO. I. Kit0I. A. Kamaeva1I. B. Lysenko2I. A. Novikova3N. N. Timoshkina4N. V. Nikolaeva5Ya. S. Gaisultanova6N. Yu. Khamaneva7A. A. Pushkin8National Medical Research Center of Oncology, Ministry of Health of RussiaNational Medical Research Center of Oncology, Ministry of Health of RussiaNational Medical Research Center of Oncology, Ministry of Health of RussiaNational Medical Research Center of Oncology, Ministry of Health of RussiaNational Medical Research Center of Oncology, Ministry of Health of RussiaNational Medical Research Center of Oncology, Ministry of Health of RussiaNational Medical Research Center of Oncology, Ministry of Health of RussiaNational Medical Research Center of Oncology, Ministry of Health of RussiaNational Medical Research Center of Oncology, Ministry of Health of RussiaIntroduction. Primary mediastinal large B-cell lymphoma is an aggressive variant of lymphoma characterized by genetic heterogeneity. First-time therapy for primary mediastinal large B-cell lymphoma usually includes immunochemotherapy. However, a substantial proportion of patients do not respond to this therapy.Objective – to analyze clinical characteristics of primary refractory primary mediastinal large B-cell lymphoma taking into account the results of targeted next-generation sequencing (NGS).Materials and methods. A 22‑year-old patient with primary mediastinal large B-cell lymphoma who had not responded to immunochemotherapy was tested using targeted NGS for 77 genes.Results. We identified 2 rare mutations in the ALK gene with an unclear clinical value. According to the literature, these mutations are primarily found in solid tumors.Conclusion. Missense mutations identified in the ALK gene are presumably associated with the course of primary mediastinal large B-cell lymphoma, in particular, with primary refractory disease.https://umo.abvpress.ru/jour/article/view/444primary mediastinal large b-cell lymphomatargeted next-generation sequencingprimary refractory disease |
| spellingShingle | O. I. Kit I. A. Kamaeva I. B. Lysenko I. A. Novikova N. N. Timoshkina N. V. Nikolaeva Ya. S. Gaisultanova N. Yu. Khamaneva A. A. Pushkin Primary mediastinal large B-cell lymphoma with a rare <i>ALK</i> gene mutation Успехи молекулярной онкологии primary mediastinal large b-cell lymphoma targeted next-generation sequencing primary refractory disease |
| title | Primary mediastinal large B-cell lymphoma with a rare <i>ALK</i> gene mutation |
| title_full | Primary mediastinal large B-cell lymphoma with a rare <i>ALK</i> gene mutation |
| title_fullStr | Primary mediastinal large B-cell lymphoma with a rare <i>ALK</i> gene mutation |
| title_full_unstemmed | Primary mediastinal large B-cell lymphoma with a rare <i>ALK</i> gene mutation |
| title_short | Primary mediastinal large B-cell lymphoma with a rare <i>ALK</i> gene mutation |
| title_sort | primary mediastinal large b cell lymphoma with a rare i alk i gene mutation |
| topic | primary mediastinal large b-cell lymphoma targeted next-generation sequencing primary refractory disease |
| url | https://umo.abvpress.ru/jour/article/view/444 |
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