Hu Qinyong, Chu Yuxin, Song Qibin, Yao Yi, Yang Weihong, Huang Shiang
Department of Oncology I, Renmin Hospital, Wuhan University, Road No. 9, Wuhan, China.
Department of Molecular Diagnosis, Kindstar Global, Biolake B3-1, Wuhan, China.
Ann Hematol. 2016 Aug;95(8):1241-8. doi: 10.1007/s00277-016-2698-7. Epub 2016 May 25.
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.
本研究旨在调查中国骨髓增生异常综合征（MDS）相关多种染色体畸变的患病率及分布情况。从中国多个城市采集骨髓样本。最初采用中期细胞遗传学（MC）分析和荧光原位杂交（FISH）检测染色体病变。Affymetrix CytoScan 750K基因芯片平台对染色体畸变进行全基因组检测。76例患者检测到染色体增加；最常见的是8号染色体三体（17.9%）。在9号染色体、19p和X染色体上检测到新的染色体增加。101例患者检测到染色体缺失。最常见的是5q缺失（21.0%）。一些缺失和增加未被MC或FISH检测到，但被基因芯片检测到。51例患者仅通过基因芯片鉴定出单亲二倍体（UPD）；最常见的是7q UPD（4.94%）和17p UPD（4.32%）。此外，56例患者检测到复杂染色体畸变。总之，在检测与MDS相关的隐匿性染色体畸变方面，Affymetrix CytoScan 750K基因芯片比MC和FISH更精确。分析中国多种染色体畸变的患病率及分布情况可能会改善MDS的诊断和治疗策略。
