Deciphering IGH rearrangement complexity and detection strategies in acute lymphoblastic leukaemia

被引：0
|
作者：
Thomson, Ashlee [1 ,2 ]
Rehn, Jacqueline [1 ,2 ]
Yeung, David [1 ,2 ,3 ]
Breen, James [4 ,5 ]
White, Deborah [1 ,2 ,6 ,7 ]
机构：
[1] Univ Adelaide, Fac Hlth & Med Sci, Adelaide, SA 5005, Australia
[2] South Australian Hlth & Med Res Inst SAHMRI, Blood Canc Program, Precis Canc Med Theme, Adelaide, SA 5000, Australia
[3] Royal Adelaide Hosp & SA Pathol, Haematol Dept, Adelaide, SA 5000, Australia
[4] Kids Res Inst Australia, Black Ochre Data Labs, Indigenous Genom, Adelaide, SA 5000, Australia
[5] Australian Natl Univ, James Curtin Sch Med Res, Canberra, ACT 2601, Australia
[6] Australian & New Zealand Childrens Oncol Grp ANZC, Clayton, Vic 3168, Australia
[7] Murdoch Childrens Res Inst, Australian Genom Hlth Alliance AGHA, Parkville, Vic 3052, Australia
来源：
NPJ PRECISION ONCOLOGY | 2025年 / 9卷 / 01期
基金：
澳大利亚国家健康与医学研究理事会;
关键词：
IN-SITU HYBRIDIZATION; HEAVY-CHAIN LOCUS; SINGLE-CELL; V(D)J RECOMBINATION; GENE FUSIONS; CHROMOSOMAL TRANSLOCATIONS; AT TRANSLOCATIONS; RT-PCR; MECHANISM; ADULTS;
D O I：
10.1038/s41698-025-00887-9
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
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.
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页数：11
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