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

Andrea Biondi, Alessandro Rambaldi, Vincenzo Rossi, Loredana Elia, Corrado Caslini, Giuseppe Basso, Raffaele Battista, Tiziano Barbui, Franco Mandelli, Giuseppe Masera, Carlo Croce, Eli Canaani, Giuseppe Cimino

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)2943-2947
Number of pages5
JournalBlood
Volume82
Issue number10
Publication statusPublished - Nov 15 1993

ASJC Scopus subject areas

  • Hematology

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