Molecular aspects of pathogenesis of chronic lymphocytic leukemia

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Abstract

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.

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About the authors

Adelina Garifovna Garifullina

Bashkir State Medical University of the Ministry of Health of the Russian Federation

Author for correspondence.
Email: nakieva-1@yandex.ru
ORCID iD: 0000-0003-4191-8638

research resident, oncologist resident

Russian Federation, Lenin str., 3, Ufa, Republic of Bashkortostan, 450008

Irina Rishatovna Gilyazova

Bashkir State Medical University of the Ministry of Health of the Russian Federation; Institute of Biochemistry and Genetics of the Ufa Federal Research Center of the Russian Academy of Sciences; Saint Petersburg State University

Email: gilyasova_irina@mail.ru
ORCID iD: 0000-0001-9499-5632

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

Russian Federation, Lenin str., 3, Ufa, Republic of Bashkortostan, 450008; Oktyabrya avenue, 71, Ufa, Republic of Bashkortostan, 450054; Universitetskaya nab., 7–9, Saint Petersburg, 199034

Gulshat Ruslanovna Abdeeva

Bashkir State Medical University of the Ministry of Health of the Russian Federation

Email: grabdeeva@bashgmu.ru
ORCID iD: 0000-0001-7189-5532

Junior Researcher, Institute of Urology and Clinical Oncology

Russian Federation, Lenin str., 3, Ufa, Republic of Bashkortostan, 450008

Dmitry Anatolyevich Kudlai

I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation; M.V. Lomonosov Moscow State University; State Scientific Center of the Institute of Immunology of the Federal Medical-Biological Agency

Email: D624254@gmail.com
ORCID iD: 0000-0003-1878-4467

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

Russian Federation, st. Trubetskaya, 8, building 2, Moscow, 119991; Leninskie Gory St., 1, Moscow, 119991; Kashirskoe Shosse St., 24, Moscow, 115522

Aigul Rinatovna Nizamova

Institute of Biochemistry and Genetics of the Ufa Federal Research Center of the Russian Academy of Sciences

Email: nizamova_aigool@mail.ru
ORCID iD: 0000-0001-8065-8942

Junior Researcher

Russian Federation, Oktyabrya avenue, 71, Ufa, Republic of Bashkortostan, 450054

Adelina Airatovna Minyazova

Bashkir State Medical University of the Ministry of Health of the Russian Federation

Email: nizamova_aigool@mail.ru
ORCID iD: 0009-0005-6951-9825

6th year student, Faculty of Pediatrics

Russian Federation, Lenin str., 3, Ufa, Republic of Bashkortostan, 450008

Bulat Akhatovich Bakirov

Bashkir State Medical University of the Ministry of Health of the Russian Federation

Email: bakirovb@gmail.com
ORCID iD: 0000-0002-3297-1608

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

Russian Federation, Lenin str., 3, Ufa, Republic of Bashkortostan, 450008

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