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

Blood. 1993 Nov 15;82(10):2943-7.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Child
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 4*
  • DNA-Binding Proteins / genetics*
  • Female
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Myeloid-Lymphoid Leukemia Protein
  • Oncogenes
  • Polymerase Chain Reaction
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / diagnosis
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / therapy
  • Proto-Oncogenes*
  • RNA, Messenger / analysis
  • Recombinant Fusion Proteins / genetics
  • Transcription Factors*
  • Translocation, Genetic*

Substances

  • DNA-Binding Proteins
  • KMT2A protein, human
  • RNA, Messenger
  • Recombinant Fusion Proteins
  • Transcription Factors
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase