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.

引用

页数：11

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