A novel 203 kD aberrant BCR-ABL product in a girl with Philadelphia chromosome positive acute lymphoblastic leukaemia

Br J Haematol. 1993 Dec;85(4):823-5. doi: 10.1111/j.1365-2141.1993.tb03234.x.

Abstract

We report a girl with Ph1-positive ALL with the aberrant BCR-ABL product. In this case, bcr exon 3 jointed not to ordinal abl exon 2 but to exon 3 resulting in the production of a 203 kD BCR-ABL fusion protein with marked tyrosine kinase activity. To our knowledge, this is the first report of an aberrant BCR-ABL product in childhood. This case was characterized with younger age and low leucocyte count at the onset, but relapsed early like the typical Ph1-positive ALL, suggesting the diversity in the clinicopathogenesis of Ph1-positive ALL.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Blotting, Southern
  • Blotting, Western
  • Child, Preschool
  • Female
  • Fusion Proteins, bcr-abl / genetics
  • Fusion Proteins, bcr-abl / metabolism*
  • Gene Rearrangement
  • Humans
  • Leukocyte Count
  • Molecular Sequence Data
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / metabolism*
  • RNA, Messenger

Substances

  • RNA, Messenger
  • Fusion Proteins, bcr-abl