Page 12 - GPD-4-1

Gene & Protein in Disease

REVIEW ARTICLE
Beyond chromosomal rearrangements: The

expanding landscape of gene fusions and
chimeric RNAs

4
Sangeen Khan 1,2† , Yue Tang 1,2† , Zhenguo Song 1,2,3 , Xi Chen , Lijun Wang ,
5
Chengjuan Zhang , and Fujun Qin *
1,2
6
1 Tianjian Laboratory of Advanced Biomedical Sciences, Academy of Medical Sciences, Zhengzhou
University, Zhengzhou 450052, China
2 Department of Microbiology and Immunology, School of Basic Medical Sciences, Zhengzhou
University, Zhengzhou 450001, China
3 Department of Pharmacy, The Affiliated Cancer Hospital of Zhengzhou University & Henan Cancer
Hospital, Zhengzhou 450008, China
4 Department of Cardiovascular, The First Affiliated Hospital of Zhengzhou University, Zhengzhou
450052, China
5 Departement of Nuclear Medicine, The Affiliated Cancer Hospital of Zhengzhou University & Henan
Cancer Hospital, Zhengzhou 450008, China
6 Center of Bio-Repository, The Affiliated Cancer Hospital of Zhengzhou University & Henan Cancer
Hospital, Zhengzhou 450008, China

Abstract
† These authors contributed equally
to this work.
BCR–ABL, the pioneering gene fusion resulting from chromosomal translocation,
*Corresponding author: has marked a major milestone in understanding genetic alterations in cancer.
Fujun Qin Initially, gene fusions were linked solely to chromosomal rearrangements, serving
(fujun_qin@zzu.edu.cn)
as diagnostic markers and cancer drivers. However, advancements in high-
Citation: Khan S, Tang Y, Song throughput sequencing and bioinformatics have revealed additional mechanisms
Z, et al. Beyond chromosomal
rearrangements: The expanding underlying gene fusion. The term “gene fusion” primarily refers to fusion events at
landscape of gene fusions and the DNA level, whereas “chimeric RNA” encompasses a wide range of transcripts
chimeric RNAs. Gene Protein Dis. containing exons from different parental genes, including gene fusion transcripts.
2025;4(1):3641.
doi: 10.36922/gpd.3641 Recent developments have identified numerous chimeric RNAs in various cancer
types, extending even to non-cancerous tissues. Chimeric RNAs, originating from
Received: May 12, 2024
1st revised: August 9, 2024 events such as trans-splicing, read-through, and intergenic splicing, form a complex
2nd revised: August 23, 2024 landscape with varied functions. While some chimeric RNAs have defined roles and
Accepted: August 26, 2024 therapeutic potential, a comprehensive understanding of their diverse functions
Published online: October 28, 2024
remains a priority. Exploring the full spectrum of chimeric RNA activities is crucial
Copyright: © 2024 Author(s). for revealing their clinical and therapeutic implications. In addition, chimeric RNAs
This is an Open-Access article are key players in tumorigenesis, affecting cellular processes, and driving cancer
distributed under the terms of the
Creative Commons Attribution progression. Understanding their intricate interactions with cellular pathways is
License, permitting distribution, essential for developing targeted therapies and precision medicine approaches. The
and reproduction in any medium, dynamic nature of chimeric RNAs highlights the need for ongoing research to fully
provided the original work is
properly cited. harness their diagnostic and therapeutic potential.
Publisher’s Note: AccScience
Publishing remains neutral with Keywords: Chimeric RNA; Gene fusion; Splicing; Cis-splicing; Trans-splicing; Cis-SAGe;
regard to jurisdictional claims in
published maps and institutional Cancer
affiliations.

Volume 4 Issue 1 (2025) 1 doi: 10.36922/gpd.3641