title: [Combined application of multiplex reverse transcription-polymerase chain reaction and karyotype analysis to detection of clonal chromosomal aberrations in acute myeloid leukemia].
abstract: OBJECTIVE
  Cytogenetic analysis plays a critical role in the diagnosis and prognosis evaluation of leukemia, but karyotype analysis is time-consuming and difficult to yield sufficient metaphases; while polymerase chain reaction (PCR) is sensitive and efficient. This study was to investigate combined application of multiplex reverse transcription-polymerase chain reaction (RT-PCR) and karyotype analysis to the detection of clonal chromosomal aberrations in acute myeloid leukemia (AML), and explore the expression and distribution of fusion genes among the subtypes of AML.
  
  
  METHODS
  Sixty AML patients were examined by multiplex RT-PCR. Cytogenetic data were obtained from 37 of them by R or G banding techniques.
  
  
  RESULTS
  Fusion genes, including AML1/ETO, PML/RARalpha, CBFbeta/MYH11, MLL gene rearrangements (that is, MLL/AF6, MLL/AF9, MLL/AF10, and MLL/MLL), DEK/CAN, TEL/PDGFR, and AML1/MDS1 (EVI-1), were detected in 28 (46.7%) patients by multiplex RT-PCR. In the 37 patients who received karyotype analysis, data were available in 30 patients and cytogenetic aberrations were detected in only 14 (46.7%) of them. The detection rate of clonal chromosomal aberrations was enhanced to 59.5% by combined application of multiplex RT-PCR and karyotype analysis.
  
  
  CONCLUSIONS
  Multiplex RT-PCR combined with karyotype analysis can improve the detection rate of clonal chromosomal aberrations in AML.
authors.affiliation: Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology,Wuhan, Hubei, 430030, PR China.
authors.forename: Liang
authors.initials: L
authors.lastname: Huang
authors.forename: Chun-Rui
authors.initials: CR
authors.lastname: Li
authors.forename: Heng
authors.initials: H
authors.lastname: Zhang
authors.forename: Li-Shi
authors.initials: LS
authors.lastname: Sun
authors.forename: Wen-Li
authors.initials: WL
authors.lastname: Liu
authors.forename: Jian-Feng
authors.initials: JF
authors.lastname: Zhou
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D005260:Female; D006801:Humans; D007621:Karyotyping / Q000379:methods; D015470:Leukemia, Myeloid, Acute / Q000145:classification / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D055815:Young Adult
chemical_list: D015514:Oncogene Proteins, Fusion