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

Q4 Medicine
Елизавета Вячеславовна Клеина, С. В. Волошин, Ю. С. Вокуева, О. Д. Петухова, Е. В. Мотыко, М. П. Бакай, Д. В. Кустова, А. Н. Кириенко, С. Ю. Линников, Е. В. Карягина, О. С. Успенская, И. С. Зюзгин, С. В. Сидоркевич, И. С. Мартынкевич
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引用次数: 0

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.
遗传畸变在套细胞淋巴瘤中的预后作用:文献回顾和临床经验
套细胞淋巴瘤(MCL)是一种外周b细胞非霍奇金淋巴瘤,其特征是组成型细胞周期蛋白D1过表达,导致细胞周期失调和DNA损伤修复中断。除了典型的易位t(11;14)(q13;q32)和更罕见的变异,如t(2;11)(p11;q13)和t(11;22)(q13;q11)外,相当多的患者往往表现出继发性分子和染色体畸变,这是MCL临床病程异质性的基础。在广泛的分子遗传异常中,在过去的几年里,特别关注的是研究所谓的双重打击MCL,在一个涉及CCND1和MYC基因易位的亚组患者中。双重打击MCL的特点是在诊断时进展迅速和肿瘤泛化。大多数MCL患者预后差,生存率低,需要尽快诊断。形态学和免疫组织化学以及遗传方法(标准细胞遗传学技术和荧光原位杂交)有助于提高循证诊断的质量。综合诊断研究的结果优化了临床预后评估和治疗决策。
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来源期刊
CiteScore
0.80
自引率
0.00%
发文量
20
审稿时长
12 weeks
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