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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Main Authors: 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
Format: Article
Language:Russian
Published: ABV-press 2022-06-01
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.
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institution DOAJ
issn 2313-805X
2413-3787
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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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AT ianovikova primarymediastinallargebcelllymphomawitharareialkigenemutation
AT nntimoshkina primarymediastinallargebcelllymphomawitharareialkigenemutation
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