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黏膜相关淋巴组织淋巴瘤遗传学的最新进展

Recent Advances in the Genetic of MALT Lymphomas.

作者信息

Rodríguez-Sevilla Juan José, Salar Antonio

机构信息

Department of Hematology, Hospital del Mar-IMIM, 08003 Barcelona, Spain.

Group of Applied Clinical Research in Hematology, Cancer Research Program-IMIM (Hospital del Mar Medical Research Institute), 08003 Barcelona, Spain.

出版信息

Cancers (Basel). 2021 Dec 30;14(1):176. doi: 10.3390/cancers14010176.

DOI:10.3390/cancers14010176
PMID:35008340
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8750177/
Abstract

Mucosa-associated lymphoid tissue (MALT) lymphomas are a diverse group of lymphoid neoplasms with B-cell origin, occurring in adult patients and usually having an indolent clinical behavior. These lymphomas may arise in different anatomic locations, sharing many clinicopathological characteristics, but also having substantial variances in the aetiology and genetic alterations. Chromosomal translocations are recurrent in MALT lymphomas with different prevalence among different sites, being the 4 most common: t(11;18)(q21;q21), t(1;14)(p22;q32), t(14;18)(q32;q21), and t(3;14)(p14.1;q32). Several chromosomal numerical abnormalities have also been described, but probably represent secondary genetic events. The mutational landscape of MALT lymphomas is wide, and the most frequent mutations are: , , , , , , , , , , , and , but many other genes may be involved. Similar to chromosomal translocations, certain mutations are enriched in specific lymphoma types. In the same line, variation in immunoglobulin gene usage is recognized among MALT lymphoma of different anatomic locations. In the last decade, several studies have analyzed the role of microRNA, transcriptomics and epigenetic alterations, further improving our knowledge about the pathogenic mechanisms in MALT lymphoma development. All these advances open the possibility of targeted directed treatment and push forward the concept of precision medicine in MALT lymphomas.

摘要

黏膜相关淋巴组织(MALT)淋巴瘤是一组起源于B细胞的异质性淋巴肿瘤,发生于成年患者,通常具有惰性临床行为。这些淋巴瘤可发生于不同解剖部位,具有许多临床病理特征,但在病因和基因改变方面也存在很大差异。染色体易位在MALT淋巴瘤中较为常见,在不同部位的发生率不同,最常见的4种是:t(11;18)(q21;q21)、t(1;14)(p22;q32)、t(14;18)(q32;q21)和t(3;14)(p14.1;q32)。也有几种染色体数目异常的描述,但可能代表继发性基因事件。MALT淋巴瘤的突变谱很广,最常见的突变是: , , , , , , , , , , , ,但可能涉及许多其他基因。与染色体易位类似,某些突变在特定淋巴瘤类型中富集。同样,在不同解剖部位的MALT淋巴瘤中,免疫球蛋白基因使用情况也存在差异。在过去十年中,多项研究分析了微小RNA、转录组学和表观遗传改变的作用,进一步提高了我们对MALT淋巴瘤发生发展致病机制的认识。所有这些进展为靶向治疗开辟了可能性,并推动了MALT淋巴瘤精准医学的概念。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bf0/8750177/e4ce0a892bc3/cancers-14-00176-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bf0/8750177/e4ce0a892bc3/cancers-14-00176-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bf0/8750177/e4ce0a892bc3/cancers-14-00176-g001.jpg

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