文章摘要

套细胞淋巴瘤分子遗传学研究进展

作者: 1雷卓, 2李文生
1 西安医学院临床医学系,西安 710068
2 陕西省人民医院病理科,西安 710068
通讯: 李文生 Email: liwensheng263@sohu.com
DOI: 10.3978/j.issn.2095-6959.2020.03.029
基金: 陕西省重点研发计划项目(2019SF-089)。

摘要

套细胞淋巴瘤(mantle cell lymphoma,MCL)是一种具有独特生物学特征的非霍奇金B细胞淋巴瘤(non-Hodgkin lymphoma,NHL),其特征是标志性易位t(11;14)(q13;q32)和细胞周期蛋白D1(cyclinD1)的过度表达。MCL的分子遗传学改变包括频繁的继发性细胞遗传学异常和少数基因的反复突变,如CCND1,SOX11等。本文对MCL近年来在分子遗传学方面的研究进展,包括细胞循环周期失调、DNA损伤应答改变以及其他相关基因的异常改变作一综述。
关键词: 套细胞淋巴瘤;分子遗传学;基因突变

Research progress of molecular genetics of mantle cell lymphoma

Authors: 1LEI Zhuo, 2LI Wensheng
1 Department of Clinical Medicine, Xi’an Medical University, Xi’an 710068, China
2 Department of Pathology, Shaanxi Provincial People’s Hospital, Xi’an 710068, China

CorrespondingAuthor: LI Wensheng Email: liwensheng263@sohu.com

DOI: 10.3978/j.issn.2095-6959.2020.03.029

Foundation: This work was supported by the Shaanxi Provincial Key Research and Development Foundation, China (2019SF-089).

Abstract

Mantle cell lymphoma (MCL) is a non-Hodgkin’s B-cell lymphoma (NHL) with unique biological characterized by the translocation event t(11;14)(q13;q32) and the resulting cyclinD1 overexpression. Molecular genetic changes of MCL include frequent secondary cytogenetic abnormalities and repeated mutations of a few genes, such as CCND1 and SOX11. In this review, we review the recent advances in molecular genetics of MCL, including dysregulation of the cell cycle, disruption of DNA damage response pathways, and abnormal changes in other related genes.
Keywords: mantle cell lymphoma; molecular genetics; gene mutation

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