Novel BCR-ABL transcript containing an intronic sequence insert in a patient with Philadelphia-positive acute lymphoblastic leukaemia

Br J Haematol. 2000 Sep;110(4):867-70. doi: 10.1046/j.1365-2141.2000.02205.x.

Abstract

In a patient with Philadelphia chromosome-positive acute lymphoblastic leukaemia (ALL), a novel variant of the chimaeric BCR-ABL mRNA transcript was detected by reverse transcription polymerase chain reaction (RT-PCR). Sequencing revealed the novel transcript to be a chimaeric mRNA produced by fusion of the BCR exon 14 (b3) to the ABL exon a2 with a 49-base pair (bp) insertion of an ABL intron 1b sequence between them. The insertion of the 49 bp introduced a stop codon. These data show that this variant of the chimaeric mRNA would not be translated into the p210 BCR-ABL protein. This could be one of the explanations as to why clinically the patient has responded well to therapy and continues to follow a mild clinical course.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amino Acid Sequence
  • Base Sequence
  • Codon, Terminator
  • Female
  • Fusion Proteins, bcr-abl*
  • Humans
  • Introns
  • Molecular Sequence Data
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • RNA, Messenger / analysis
  • Reverse Transcriptase Polymerase Chain Reaction
  • Translocation, Genetic*

Substances

  • Codon, Terminator
  • RNA, Messenger
  • Fusion Proteins, bcr-abl