Background & 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.
Conclusion: Multiplex RT-PCR combined with karyotype analysis can improve the detection rate of clonal chromosomal aberrations in AML.