title: The prevalence of chromosomal aberrations associated with myelodysplastic syndromes in China.
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.
authors.affiliation: Department of Oncology I, Renmin Hospital, Wuhan University, Road No. 9, Wuhan, China.
authors.forename: Qinyong
authors.initials: Q
authors.lastname: Hu
authors.affiliation: Department of Oncology I, Renmin Hospital, Wuhan University, Road No. 9, Wuhan, China.
authors.forename: Yuxin
authors.initials: Y
authors.lastname: Chu
authors.affiliation: Department of Oncology I, Renmin Hospital, Wuhan University, Road No. 9, Wuhan, China. qibinsong@163.com.
authors.forename: Qibin
authors.initials: Q
authors.lastname: Song
authors.affiliation: Department of Oncology I, Renmin Hospital, Wuhan University, Road No. 9, Wuhan, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Yao
authors.affiliation: Department of Molecular Diagnosis, Kindstar Global, Biolake B3-1, Wuhan, China.
authors.forename: Weihong
authors.initials: W
authors.lastname: Yang
authors.affiliation: Department of Molecular Diagnosis, Kindstar Global, Biolake B3-1, Wuhan, China. sahuang@hotmail.com.
authors.forename: Shiang
authors.initials: S
authors.lastname: Huang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D002681:China / Q000453:epidemiology; D002869:Chromosome Aberrations; D005260:Female; D015894:Genome, Human / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D015995:Prevalence; D055815:Young Adult
keywords: Chromosomal aberration; Genechip; Myelodysplastic syndrome (MDS); Prevalence