Molekulyarnaya Meditsina (Molecular medicine)Molekulyarnaya Meditsina (Molecular medicine)Молекулярная медицина1728-29182499-9490Russkiy Vrach Publishing House67728210.29296/24999490-2024-06-03ReviewsОбзорыReview ArticleMolecular aspects of pathogenesis of chronic lymphocytic leukemiaМолекулярные аспекты патогенеза хронического лимфоцитарного лейкозаhttps://orcid.org/0000-0003-4191-8638GarifullinaAdelina GarifovnaГарифуллинаАделина Гарифовна
Russian Federation

research resident, oncologist resident

научный ординатор, ординатор-онколог

nakieva-1@yandex.ruhttps://orcid.org/0000-0001-9499-5632GilyazovaIrina RishatovnaГилязоваИрина Ришатовна
Russian Federation

Senior Researcher, Senior Researcher, Laboratory of Molecular Genetics, Institute of Urology and Clinical Oncology, Senior Researcher, Candidate of Biological Sciences, Associate Professor

старший научный сотрудник, старший научный сотрудник лаборатории молекулярной генетики Института урологии и клинической онкологии, старший научный сотрудник (биологический факультет), кандидат биологических наук, доцент

gilyasova_irina@mail.ruhttps://orcid.org/0000-0001-7189-5532AbdeevaGulshat RuslanovnaАбдееваГульшат Руслановна
Russian Federation

Junior Researcher, Institute of Urology and Clinical Oncology

младший научный сотрудник Института урологии и клинической онкологии

grabdeeva@bashgmu.ruhttps://orcid.org/0000-0003-1878-4467KudlaiDmitry AnatolyevichКудлайДмитрий Анатольевич
Russian Federation

Corresponding Member of the Russian Academy of Sciences, Professor, Department of Pharmacology, Institute of Pharmacy, Deputy Dean for Innovation and Translational Work of the Faculty of Fundamental Medicine, Professor of the Department of Pharmacognosy and Industrial Pharmacy of the Faculty of Fundamental Medicine, Leading Researcher of the Laboratory of Personalized Medicine and Molecular Immunology No. 71, Doctor of Medical Sciences, Professor

член-корреспондент РАН, профессор кафедры фармакологии Института Фармации, заместитель декана по инновационной и трансляционной работе факультета фундаментальной медицины, профессор кафедры фармакогнозии и промышленной фармации факультета фундаментальной медицины, ведущий научный сотрудник лаборатории персонализированной медицины и молекулярной иммунологии №71, доктор медицинских наук, профессор

D624254@gmail.comhttps://orcid.org/0000-0001-8065-8942NizamovaAigul RinatovnaНизамоваАйгуль Ринатовна
Russian Federation

Junior Researcher

младший научный сотрудник

nizamova_aigool@mail.ruhttps://orcid.org/0009-0005-6951-9825MinyazovaAdelina AiratovnaМинязоваАделина Айратовна
Russian Federation

6th year student, Faculty of Pediatrics

студент 6 курса педиатрического факультета

nizamova_aigool@mail.ruhttps://orcid.org/0000-0002-3297-1608BakirovBulat AkhatovichБакировБулат Ахатович
Russian Federation

Head of the Department of Hospital Therapy No.2, Doctor of Medical Sciences, Associate Professor

заведующий кафедрой госпитальной терапии №2, доктор медицинских наук, доцент

bakirovb@gmail.comBashkir State Medical University of the Ministry of Health of the Russian FederationФГБОУ ВО «Башкирский государственный медицинский университет» Министерства здравоохранения Российской ФедерацииInstitute of Biochemistry and Genetics of the Ufa Federal Research Center of the Russian Academy of SciencesИнститут биохимии и генетики Уфимского Федерального исследовательского центра РАНSaint Petersburg State UniversityФГБОУ ВО «Санкт-Петербургский государственный университет»I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian FederationФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Министерства здравоохранения Российской ФедерацииM.V. Lomonosov Moscow State UniversityМосковский государственный университет им. М.В. ЛомоносоваState Scientific Center of the Institute of Immunology of the Federal Medical-Biological AgencyФГБУ «Государственный Научный центр Института иммунологии» Федеральное медико-биологическое агентство России1512202422621281703202517032025Copyright ©; 2024, Russkiy Vrach Publishing HouseCopyright ©; 2024, ИД "Русский врач"2024Russkiy Vrach Publishing HouseИД "Русский врач"https://journals.eco-vector.com/1728-2918/article/view/677282

Introduction. Chronic lymphocytic leukemia (CLL) is the most common leukemia type in adults. CLL is characterized by significant changes in the patient's genome, including both various mutations and epigenetic changes. These changes currently play an important role in the diagnosis, prognosis and treatment of the disease.

The aim of the work is to review the scientific literature on genetic mutations that occur in chronic lymphocytic leukemia.

Material and methods. The following databases were used to search for published studies: PubMed, Web of Science, EBSCOhost and Scopus. The search was performed in the time period from the date of creation of the corresponding databases to October 2024. A study was considered suitable if it was original, included the clinical and pathogenetic features of CLL.

Results. From the presented analysis of sources, it could be concluded that the main genetic changes in CLL are chromosomal mutations. Moreover, the most common anomalies are del(13q14) and del(17p). The microenvironment in CLL is also very important. The behavior of CLL cells depends on signals originating from non-tumor cells in the microenvironment. The tumor genome of many patients with CLL is characterized by the presence of mutations in the genes of the variable region of the heavy chain of immunoglobulins, while in other patients the above-mentioned genes do not contain mutations, which is associated with an unfavorable prognosis of the disease.

Conclusions. The review analyzes various types of anomalies in CLL. The main stages of the pathogenetic mechanism in the evolution of the disease and possible methods of treatment depending on the genetic mutation are also examined.

Введение. Хронический лимфоцитарный лейкоз (ХЛЛ) является наиболее распространенным гемобластозом у взрослых. Для ХЛЛ характерны выраженные изменения в геноме пациента, включающие как различные мутации, так и эпигенетические изменения. Эти изменения на сегодняшний день играют важную роль в диагностике, прогнозе и терапии заболевания.

Целью работы является обзор научной литературы о генетических мутациях, возникающих при хроническом лимфоцитарном лейкозе.

Материал и методы. Для поиска опубликованных исследований использовались следующие базы данных: PubMed, Web of Science, EBSCOhost и Scopus. Поиск производился во временном интервале с даты создания соответствующей базы данных до октября 2024 г. Исследование признавалось подходящим, в случае если оно было оригинальным, рассматривало клинические и патогенетические особенности ХЛЛ.

Результаты. Из представленного анализа литературных источников следует, что основными генетическими изменениями при ХЛЛ являются хромосомные мутации. При этом наиболее распространенной аномалией является делеция del(13q14) и del(17p). Также при ХЛЛ большое значение имеет микроокружение. Поведение клеток ХЛЛ зависит от сигналов, источником которых являются находящиеся в микроокружении неопухолевые клетки. Геном опухолей многих пациентов с ХЛЛ характеризуется наличием мутаций в генах вариабельного региона тяжелой цепи иммуноглобулинов, в то время как у других пациентов вышеупомянутые гены не содержат мутаций, что ассоциировано с неблагоприятным прогнозом заболевания.

Заключение. В обзоре проанализированы различные виды аномалий при ХЛЛ. Рассмотрены основные этапы патогенетического механизма в эволюции заболевания и возможные способы лечения в зависимости от генетической мутации.

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