[Combined application of multiplex reverse transcription-polymerase chain reaction and karyotype analysis to detection of clonal chromosomal aberrations in acute myeloid leukemia].
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.
Huang
Liang
L
Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology,Wuhan, Hubei, 430030, PR China.
Li
Chun-Rui
CR
Zhang
Heng
H
Sun
Li-Shi
LS
Liu
Wen-Li
WL
Zhou
Jian-Feng
JF
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
D015514:Oncogene Proteins, Fusion