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Detection of ALL-1/AF4 fusion transcript by reverse transcription-
polymerase chain reaction for diagnosis and monitoring of acute leukemias
with the t(4;11) translocation
A Biondi, A Rambaldi, V Rossi, L Elia, C Caslini, G Basso, R Battista, T Barbui, F Mandelli and G Masera
Clinical Pediatrica Universita di Milano, Ospedale San Gerardo, Monza,
Italy.
The chromosomal breakpoints of t(4;11) translocation of acute lymphoblastic
leukemia (ALL) have been recently identified at molecular level and shown
to involve the AF4 (FEL) gene on chromosome 4 and the ALL-1 (MLL, Hrx) gene
on chromosome 11. The ALL-1/AF4 fusion gene is transcribed into a chimeric
mRNA. Using primer sets derived from ALL-1 and AF4 cDNAs by reverse
transcription-polymerase chain reaction (RT- PCR), we were able to amplify
the breakpoint sites of the fusion transcript of all 15 ALL cases with
karyotypic or molecular evidence of the t(4;11). DNA fragments of different
size were obtained as the consequence of different breakpoints on
chromosome 11 and the presence of alternative splicing of ALL-1 exon 8. The
feasibility of monitoring the residual cells carrying the t(4;11) in 2 ALL
patients with different clinical outcome was evaluated. Overall, the
presented results provide evidence that RT-PCR can be used as a rapid
method for detecting this chromosomal abnormality and following the
patient's response to therapy.
Volume 82,
Issue 10,
pp. 2943-2947,
11/15/1993
Copyright © 1993 by The American Society of Hematology
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