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01-08-2016 | Original Article

The prevalence of chromosomal aberrations associated with myelodysplastic syndromes in China

Authors: Qinyong Hu, Yuxin Chu, Qibin Song, Yi Yao, Weihong Yang, Shiang Huang

Published in: Annals of Hematology | Issue 8/2016

Abstract

This study aims to investigate the prevalence and distribution of diverse chromosomal aberrations associated with myelodysplastic syndromes (MDS) in China. Bone marrow samples were collected from multiple cities in China. Metaphase cytogenetic (MC) analysis and fluorescence in situ hybridization (FISH) were initially used to test chromosomal lesions. Affymetrix CytoScan 750 K genechip platform performed a genome-wide detection of chromosomal aberrations. Chromosomal gain was identified in 76 patients; the most prevalent was trisomy 8(17.9 %). New chromosomal gain was detected on chromosome 9, 19p, and X. Chromosomal loss was detected in 101 patients. The most frequent was loss 5q (21.0 %). Some loss and gain were not identified by MC or FISH but identified by genechip. UPD was solely identified by genechip in 51 patients; the most prevalent were UPD 7q (4.94 %) and UPD 17p (4.32 %). Furthermore, complex chromosomal aberrations were detected in 56 patients. In conclusion, Affymetrix CytoScan 750 K genechip was more precise than MC and FISH in detection of cryptic chromosomal aberrations relevant to MDS. Analysis of the prevalence and distribution of diverse chromosomal aberrations in China may improve strategies for MDS diagnosis and therapies.

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Title: The prevalence of chromosomal aberrations associated with myelodysplastic syndromes in China
Authors: Qinyong Hu
Yuxin Chu
Qibin Song
Yi Yao
Weihong Yang
Shiang Huang
Publication date: 01-08-2016
Publisher: Springer Berlin Heidelberg
Published in: Annals of Hematology / Issue 8/2016
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI: https://doi.org/10.1007/s00277-016-2698-7

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