Berta Dereje, Girma Mekonnen, Melku Mulugeta, Adane Tiruneh, Birke Bisrat, Yalew Aregawi
Department of Hematology and Immunohematology, School of Biomedical and Laboratory Sciences, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.
Department of Quality Assurance and Laboratory Management, School of Biomedical and Laboratory Sciences, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.
Int J Gen Med. 2023 Jun 15;16:2469-2480. doi: 10.2147/IJGM.S414106. eCollection 2023.
Ribonucleic acid splicing is a crucial process to create a mature mRNA molecule by removing introns and ligating exons. This is a highly regulated process, but any alteration in splicing factors, splicing sites, or auxiliary components affects the final products of the gene. In diffuse large B-cell lymphoma, splicing mutations such as mutant splice sites, aberrant alternative splicing, exon skipping, and intron retention are detected. The alteration affects tumor suppression, DNA repair, cell cycle, cell differentiation, cell proliferation, and apoptosis. As a result, malignant transformation, cancer progression, and metastasis occurred in B cells at the germinal center. B-cell lymphoma 7 protein family member A (BCL7A), cluster of differentiation 79B (CD79B), myeloid differentiation primary response gene 88 (MYD88), tumor protein P53 (TP53), signal transducer and activator of transcription (STAT), serum- and glucose-regulated kinase 1 (SGK1), Pou class 2 associating factor 1 (POU2AF1), and neurogenic locus notch homolog protein 1 (NOTCH) are the most common genes affected by splicing mutations in diffuse large B cell lymphoma.
核糖核酸剪接是通过去除内含子并连接外显子来产生成熟mRNA分子的关键过程。这是一个高度受调控的过程，但剪接因子、剪接位点或辅助成分的任何改变都会影响基因的最终产物。在弥漫性大B细胞淋巴瘤中，可检测到剪接突变，如突变剪接位点、异常可变剪接、外显子跳跃和内含子保留。这种改变会影响肿瘤抑制、DNA修复、细胞周期、细胞分化、细胞增殖和细胞凋亡。结果，生发中心的B细胞发生恶性转化、癌症进展和转移。B细胞淋巴瘤7蛋白家族成员A（BCL7A）、分化簇79B（CD79B）、髓样分化初级反应基因88（MYD88）、肿瘤蛋白P53（TP53）、信号转导和转录激活因子（STAT）、血清和葡萄糖调节激酶1（SGK1）、POU2类相关因子1（POU2AF1）以及神经源性位点Notch同源蛋白1（NOTCH）是弥漫性大B细胞淋巴瘤中受剪接突变影响最常见的基因。
