解析急性淋巴细胞白血病中IGH重排的复杂性及检测策略

Deciphering IGH rearrangement complexity and detection strategies in acute lymphoblastic leukaemia.

作者信息

Thomson Ashlee, Rehn Jacqueline, Yeung David, Breen James, White Deborah

机构信息

Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5005, Australia.

Blood Cancer Program, Precision Cancer Medicine Theme, South Australian Health & Medical Research Institute (SAHMRI), Adelaide, SA, 5000, Australia.

出版信息

NPJ Precis Oncol. 2025 Apr 4;9(1):99. doi: 10.1038/s41698-025-00887-9.

DOI:10.1038/s41698-025-00887-9

PMID:40185891

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11971345/

Abstract

Acute lymphoblastic leukaemia is a highly heterogeneous malignancy characterised by various genomic alterations that influence disease progression and therapeutic outcomes. Gene fusions involving the immunoglobulin heavy chain gene represent a complex and diverse category. These fusions often result in enhancer hijacking, upregulation of partner proto-oncogenes and contribute to leukemogenesis. This review highlights the mechanisms underlying IGH gene fusions, the critical role they play in ALL pathogenesis, and current detection technologies.

摘要

急性淋巴细胞白血病是一种高度异质性的恶性肿瘤，其特征是存在多种影响疾病进展和治疗结果的基因组改变。涉及免疫球蛋白重链基因的基因融合是一个复杂多样的类别。这些融合常常导致增强子劫持、伙伴原癌基因上调，并促成白血病的发生。本综述重点介绍了IGH基因融合的潜在机制、它们在急性淋巴细胞白血病发病机制中所起的关键作用以及当前的检测技术。