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Review
. 2017 May 9;8(37):62716-62729.
doi: 10.18632/oncotarget.17698. eCollection 2017 Sep 22.

Techniques for detecting chromosomal aberrations in myelodysplastic syndromes

Qibin Song  1 , Min Peng  1 , Yuxin Chu  1 , Shiang Huang  2
Affiliations
Review

Techniques for detecting chromosomal aberrations in myelodysplastic syndromes

Qibin Song et al. Oncotarget. .

Abstract

Myelodysplastic syndromes (MDS) are a group of heterogeneous hematologic diseases. Chromosomal aberrations are important for the initiation, development, and progression of MDS. Detection of chromosomal abnormalities in MDS is important for categorization, risk stratification, therapeutic selection, and prognosis evaluation of the disease. Recent progress of multiple techniques has brought powerful molecular cytogenetic information to reveal copy number variation, uniparental disomy, and complex chromosomal aberrations in MDS. In this review, we will introduce some common chromosomal aberrations in MDS and their clinical significance. Then we will explain the application, advantages, and limitations of different techniques for detecting chromosomal abnormalities in MDS. The information in this review may be helpful for clinicians to select appropriate methods in patient-related decision making.

Keywords: chromosomal aberration; myelodysplastic syndromes; technique.

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Figures

Figure 1
Figure 1. MC displays a whole chromosomal view of visible aberrations in a MDS patient
Trisomy 8 is distinctly revealed by MC.
Figure 2
Figure 2. Based on individually designed probes, FISH helps to detect specific chromosomal aberrations in MDS
(A) D7Z1/D7S486 probe indicates deletion on 7p11.1-q11.1/7q31. (B) D8Z2 probe reveals trisomy 8.
See this image and copyright information in PMC

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