title: [A comparative study of fluorescence in situ hybridization versus conventional cytogenetics in the detection of clonal aberrations in myelodysplastic syndrome].
abstract: OBJECTIVE
  To compare the results of fluorescence in situ hybridization (FISH) versus conventional cytogenetics (CC) in the detection of common chromosomal abnormalities and evaluate the significance of FISH in myelodysplastic syndrome (MDS) .
  
  
  METHODS
  A total of 344 patients with de novo MDS from June 2008 to October 2012 were detected by 6 pairs of probes, including CSF1R/D5S23-D5S721 (5q33) , EGR1/ D5S23-D5S721 (5q31) , D7S486 (7q31) /CSP7, D7S522 (7q31) /CSP7, D20S108/CSP8 (20q12/CSP8) and CSPX/CSPY. The results were compared with those of CC.
  
  
  RESULTS
  CC revealed cytogenetic abnormalities in 168/344 cases (48.8%) and the frequency of common aberrations such as +8, 20q-, -7/7q-, -5/5q- and -Y were 18.9% (65/344) , 9.3% (32/344), 8.4% (29/344), 8.4% (29/344) and 2.4% (5/206) respectively. While FISH revealed chromosome abnormalities in 147/344 patients (42.7%) and the frequency of +8, 20q-, -7/7q-, -5/5q- and -Y were 20.9% (72/344), 11.6% (40/344), 11.6% (40/344), 10.2% (35/344) and 2.9% (6/206) respectively. Overall 187/344 patients (54.4%) carried clonal aberrations by a combination of CC and FISH. Among 158 patients with normal karyotype by CC, 14 cases (8.9%) were detected to have clonal aberrations by FISH. FISH also confirmed 4 carriers of clonal aberrations out of 9 patients with non clonal abnormalities by CC.
  
  
  CONCLUSIONS
  FISH is effective for improving the probability of detecting chromosome abnormalities in MDS cases with normal karyotypes and karyotype failure. FISH may provide rationales for clonal abnormalities in patients with non clonal aberrations by CC. A combination of FISH and CC shows complementary advantages.
authors.affiliation: Peking University People's Hospital, Peking University Institute of Hematology, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing 100044, China.
authors.forename: Yue-yun
authors.initials: YY
authors.lastname: Lai
authors.forename: Na
authors.initials: N
authors.lastname: Li
authors.forename: Lin
authors.initials: L
authors.lastname: Feng
authors.forename: Yan
authors.initials: Y
authors.lastname: Shi
authors.forename: Hui
authors.initials: H
authors.lastname: Dang
authors.forename: Qi
authors.initials: Q
authors.lastname: He
authors.forename: Zheng
authors.initials: Z
authors.lastname: Wang
authors.forename: Xiao-yan
authors.initials: XY
authors.lastname: Wang
authors.forename: Ye
authors.initials: Y
authors.lastname: Li
authors.forename: Qing
authors.initials: Q
authors.lastname: Liu
authors.affiliation: Peking University People's Hospital, Peking University Institute of Hematology, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing 100044, China; Peking-Tsinghua Center for Life Sciences, Beijing 100871, China. Email: xjhrm@medmail.com.
authors.forename: Xiao-jun
authors.initials: XJ
authors.lastname: Huang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D003582:Cytogenetics / Q000379:methods*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult