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Blood, 1 February 2001, Vol. 97, No. 3, pp. 805-808
BRIEF REPORT
Multiplex reverse transcriptase-polymerase chain reaction
screening in childhood acute myeloblastic leukemia
Sabine Strehl,
Margit König,
Georg Mann, and
Oskar A. Haas
From the Children's Cancer Research Institute (CCRI)
and the Ludwig- Boltzmann Institute for Cytogenetic Diagnosis
(LBICD), St Anna Children's Hospital, Vienna, Austria.
To determine the incidence of leukemia-specific rearrangements,
60 cases of childhood acute myeloblastic leukemia and transient myeloproliferative disorder were screened with a novel multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) assay, and
the results were correlated with the cytogenetic findings. The RT-PCR
assay detects 28 different fusion genes and more than 80 different
fusion transcript variants. RNA was isolated from methanol/acetic
acid-fixed cells that had been routinely prepared for cytogenetic
analysis. Nine different fusion transcripts were found in 40% of the
cases, whereas 78.3% of the cases had abnormal karyotypes. Two cases
with a t(6;11) and an MLL/AF6 gene fusion were
missed cytogenetically. Conversely, cytogenetic analysis revealed 10 other well-defined chromosome rearrangements. Although cytogenetic
analysis reveals a much broader range of abnormalities, multiplex
RT-PCR serves as quality control and provides the essential information
for minimal residual disease studies. Moreover, discrepant findings
lead to the detection of new rearrangements on the molecular genetic level.
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