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Review
. 2020 May 26:17:562-570.
doi: 10.1016/j.omto.2020.05.010. eCollection 2020 Jun 26.

Chromosome Abnormalities: New Insights into Their Clinical Significance in Cancer

Fan Kou  1   2   3   4   5 , Lei Wu  1   2   3   4   5 , Xiubao Ren  1   2   3   4   5   6 , Lili Yang  1   2   3   4   5
Affiliations
Review

Chromosome Abnormalities: New Insights into Their Clinical Significance in Cancer

Fan Kou et al. Mol Ther Oncolytics. .

Abstract

Chromosomal abnormalities, consisting of numerical and structural chromosome abnormalities, are a common characteristic of cancer. Numerical chromosome abnormalities, mainly including aneuploidy and chromosome instability, are caused by chromosome segregation errors in mitosis, whereas structural chromosome abnormalities are a consequence of DNA damage and comprise focal/arm-level chromosome gain or loss. Recent advances have started to unveil the mechanisms by which chromosomal abnormalities can facilitate tumorigenesis and change the cellular fitness and the expression or function of RNAs and proteins. Accumulating evidence suggests that chromosome abnormalities represent a genomic signature that is linked to cancer prognosis and reaction to chemotherapy and immunotherapy. In this review, we discuss the most recent findings on the role of chromosome abnormalities in tumorigenesis and cancer progression, with a particular emphasis on how aneuploidy and chromosome instability influence cancer therapy and prognosis. We also highlight the distribution and clinical application of the structural chromosome abnormalities in various cancer types. A better understanding of the role of chromosome abnormalities will be beneficial to the development of precision oncology and suggest future directions for the field.

Keywords: aneuploidy; chemotherapy; chromosomal abnormalities; chromosome instability; immunotherapy.

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Figures

None
Graphical abstract
Figure 1
Figure 1
Classification of Chromosome Abnormalities Based on the mechanism of chromosome segregation errors or DNA damage, chromosome abnormalities are divided into numerical and structural chromosome abnormalities, respectively. Numerical chromosome abnormalities mainly consist of aneuploidy, CIN, triploidy, and tetraploidy, while structural chromosome abnormalities mostly present chromosome focal /arm-level deletions or amplifications.
Figure 2
Figure 2
The Role of Structural Chromosome Abnormalities in Tumorigenesis and Progression Chromosome focal-level amplifications or deletions cause specific gene alterations located by chromosome region, further resulting in the activation of oncogene or silencing of antioncogene. These alterations can promote tumorigenesis and tumor progression.
Figure 3
Figure 3
Schematic Representation of Aneuploidy and CIN in Relation to Cancer Chemotherapy and Immunotherapy CIN, derived from chromosome missegregation errors, is the process that leads to aneuploidy. Tumors with aneuploidy or CIN, referred to as chromosome abnormalities, cause increased recurrence as well as shortened survival of cancer chemotherapy and immunotherapy.
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