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Global Translational Medicine

REVIEW ARTICLE
Fusion genes as diagnostic and predictive

biomarkers for tumor

Zhaoshi Bao *, Ruichao Chai , Xing Liu , and Jiayi Wang 3
2
2
1
1 Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
2 Department of Molecular Neuropathology, Beijing Neurosurgical Institute, Capital Medical University,
Beijing, China
3 Department of Neurosurgery, San Bo Brain Hospital, Capital Medical University, Beijing, China
Abstract

Structural variants, including chromosomal rearrangements and translocations, may
result in the formation of fusion genes. Glioma is the most frequent brain tumor
among adults. Due to complex tumor classifications, characterization of recurrence,
inadequate sample size and controversial mechanisms of tumor malignancy, clinical
strategies have not been developed for almost 30 years. Fusion gene is one of
the strong driver events in glioma tumorigenesis and has provided fundamental
insights into the disease mechanisms. This review elucidates the literature on the
discovery of fusion genes, the development of detection techniques, and their
clinical implementations. In conclusion, fusion genes are important diagnostic and
predictive biomarkers for brain tumors.

Keywords: Glioma; Fusion gene; Target therapy; PTPRZ1-MET fusion

1. Introduction
*Corresponding author:
Zhaoshi Bao Brain tumors are one of the top ten common lethal tumors in the world, with an
(baozhaoshi@bjtth.org)
incidence rate of 15 – 20/100,000 and a prevalence rate of 130.8/100,000. According to
Citation: Bao Z, Chai R, Liu X, the latest statistics in 2019, the incidence of brain tumors has gradually increased, and
et al., 2022, Fusion genes
[1]
as diagnostic and predictive it has become the main cause of death in intracranial lesions . According to foreign
biomarkers for tumor. Global Transl data estimates, it is projected that there will be approximately 200,000 new cases of
Med, 1(1): 54. brain tumors each year and there are about 2 million patients with brain tumors in
https://doi.org/10.36922/gtm.v1i1.54
China . In the United States, about 13,000 people die from primary brain tumors and
[2]
Received: March 22, 2022
Accepted: May 12, 2022 spinal cord tumors each year. The increase of the mortality rate of brain tumors even
[3]
th
th
Published Online: May 27, 2022 elevates their ranking from the 10 to the 9 most lethal human malignant tumors .
Copyright: © 2022 Author(s). Despite the improvement of the treatment strategies for various types of tumors and
This is an Open Access article the prolongation of patients’ survival period, the incidence of brain tumor progression
distributed under the terms of the was still on the rise in the last decade. Up to 20 – 40% of malignant tumors eventually
Creative Commons Attribution
[4]
License, permitting distribution, undergo tumor progression, which has a great impact on human health . Gliomas are
and reproduction in any medium, the most common and lethal form of intracranial tumor in adults.
provided the original work is
properly cited. According to the World Health Organization classification of tumors of the central
Publisher’s Note: AccScience nervous system (CNS), adult gliomas are classified into Grade II to IV based on their
Publishing remains neutral with morphological features [5-7] . In turn, Grade IV gliomas, or glioblastoma multiforme
regard to jurisdictional claims in [4]
published maps and institutional (GBM), can generally be classified into two subgroups . Primary GBMs with isocitrate
affiliations. dehydrogenase (IDH) wild type, which are thought to be the predominant form of GBMs,
Volume 1 Issue 1 (2022) 1 https://doi.org/10.36922/gtm.v1i1.54