The Prognostic Role of Genetic Aberrations in Mantle Cell Lymphoma: A Literature Review and Clinical Experience

EV Kleina1, SV Voloshin1,2, YuS Vokueva1, OD Petukhova1, EV Motyko1, MP Bakai1, DV Kustova1, AN Kirienko1, SYu Linnikov1, EV Karyagina3, OS Uspenskaya4, IS Zyuzgin5, SV Sidorkevich1, IS Martynkevich1

1 Russian Research Institute of Hematology and Transfusiology, 16 2-ya Sovetskaya ul., Saint Petersburg, Russian Federation, 191024

2 SM Kirov Military Medical Academy, 6 Akademika Lebedeva ul., Saint Petersburg, Russian Federation, 194044

3 Municipal Hospital No. 15, 4 Avangardnaya ul., Saint Petersburg, Russian Federation, 198205

4 Leningrad Regional Clinical Hospital, 45 korp. 2A Lunacharskogo pr-t, Saint Petersburg, Russian Federation, 194291

5 NN Petrov National Medical Cancer Research Center, 68 Leningradskaya ul., Pesochnyi pos., Saint Petersburg, Russian Federation, 197758

For correspondence: Elizaveta Vyacheslavovna Kleina, 16 2-ya Sovetskaya ul., Saint Petersburg, Russian Federation, 191024; e-mail: elizabeth.kleina@gmail.com

For citation: Kleina EV, Voloshin SV, Vokueva YuS, et al. The Prognostic Role of Genetic Aberrations in Mantle Cell Lymphoma: A Literature Review and Own Experience. Clinical oncohematology. 2023;16(2):213–26. (In Russ).

DOI: 10.21320/2500-2139-2023-16-2-213-226


ABSTRACT

Mantle cell lymphoma (MCL) is a type of peripheral B-cell non-Hodgkin’s lymphoma characterized by constitutive cyclin D1 overexpression leading to cell-cycle dysregulation and disruption of DNA damage repair. Apart from the typical translocation t(11;14)(q13;q32) and more rare variants, such as t(2;11)(p11;q13) and t(11;22)(q13;q11), a considerable number of patients quite often show secondary molecular and chromosomal aberrations underlying heterogeneity of the clinical course of MCL. Among a wide range of molecular genetic abnormalities, particular attention during the last years has been concentrated on studying the so-called double-hit MCL within a subgroup of patients with translocations involving CCND1 and MYC genes. Double-hit MCL is distinguished with rapid progression and tumor generalization at the time of diagnosis. Poor prognosis and low survival rates in most MCL patients call for the fastest possible diagnosis. Morphological and immunohistochemical as well as genetic methods (standard cytogenetic technique and fluorescence in situ hybridization) contribute to improving the quality of evidence-based diagnosis. The results of comprehensive diagnostic studies optimize prognosis assessment and treatment decision making in clinic.

Keywords: mantle cell lymphoma, double-hit MCL, karyotype, genetic aberrations, prognostic factors.

Received: August 16, 2022

Accepted: February 27, 2023

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Статистика Plumx английский

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