Philadelphia-positive acute lymphoblastic leukemia with multiple subclones including duplication of the Philadelphia chromosome and Abelson oncogene

Cancer Genet Cytogenet. 2002 Jan 1;132(1):46-50. doi: 10.1016/s0165-4608(01)00507-6.

Abstract

A case of Philadelphia (Ph)-positive acute lymphoblastic leukemia (ALL) with multiple subclones including duplication of the BCR-ABL1 fusion gene and of the Abelson oncogene (ABL1) is reported. Cytogenetically, two different rearrangements of chromosome 9 not involved in the t(9;22) were found in two subclones. In one subclone the normal 9 was lost and replaced by an acrocentric marker, which contained an additional copy of the BCR-ABL1 fusion gene. Reverse transcriptase polymerase chain reaction detected the fusion transcripts p210 (e13a2 junction) and p190 (e1a2 junction), whereas fluorescence in situ hybridization showed the major BCR-ABL1 junction in both Ph chromosomes, strongly suggesting that the presence of the p210 and p190 proteins in this case was due to mechanisms of alternative or mis-splicing at the transcriptional level. The second subclone showed the classic t(9;22) plus an add(9)(p24) containing two copies of the ABL1 gene. Other molecular events involving chromosome 9 were a monoallelic loss of JAK2 in both subclones and an additional loss of P15/P16 in the subclone with the acrocentric marker bearing the extra Ph chromosome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Adolescent
  • Blotting, Southern
  • Chromosomes, Human, Pair 22 / genetics
  • Chromosomes, Human, Pair 9 / genetics
  • Clone Cells / pathology
  • DNA Primers / chemistry
  • Female
  • Fusion Proteins, bcr-abl / genetics*
  • Gene Duplication*
  • Genes, abl / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Oncogene Proteins / genetics
  • Philadelphia Chromosome*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • DNA Primers
  • Oncogene Proteins
  • Fusion Proteins, bcr-abl