A novel variant of the bcr-abl fusion product in Philadelphia chromosome-positive acute lymphoblastic leukemia

Leukemia. 1990 Jun;4(6):397-403.

Abstract

Two patients with Philadelphia chromosome-positive acute lymphoblastic leukemia showed novel variants of the chimeric bcr-abl mRNA. The bcr-abl breakpoint region on cDNA derived from the chimeric mRNA was amplified using the polymerase chain reaction (PCR). Sequence analysis of the breakpoint-containing fragment showed that in both patients exon a2 of the abl gene was deleted, giving rise to an in-frame joining at the mRNA level of 5' bcr sequences to the abl exon a3. These findings were confirmed by Southern blot analysis and cloning of chromosomal DNA. Protein studies showed a bcr-abl protein with heightened tyrosine kinase activity in blast cells of both patients: one of the P190 type, the other of the P210 type. The significance of these findings and the role of this new type of translocation in the disregulation of the abl gene are discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Blotting, Southern
  • Chromosome Deletion
  • Cloning, Molecular
  • Female
  • Fusion Proteins, bcr-abl / genetics
  • Fusion Proteins, bcr-abl / metabolism*
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Molecular Weight
  • Oncogenes
  • Philadelphia Chromosome*
  • Polymerase Chain Reaction
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / enzymology
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / metabolism*
  • Protein-Tyrosine Kinases / metabolism
  • RNA, Messenger / metabolism

Substances

  • RNA, Messenger
  • Protein-Tyrosine Kinases
  • Fusion Proteins, bcr-abl