BCR/ABL rearrangement with b3a3 fusion transcript in a case of childhood acute lymphoblastic leukemia

Cancer Genet Cytogenet. 2009 Mar;189(2):132-7. doi: 10.1016/j.cancergencyto.2008.11.006.

Abstract

The role of BCR/ABL isoforms and their relationship to leukemia phenotype have been of major concern. Atypical BCR/ABL mRNA transcripts lacking exon a2 have been reported in 12 cases of acute lymphoblastic leukemia (ALL) to date; among them, a b3a3 type transcript has been reported only once in the childhood ALL. Reported here is the case of a patient with Philadelphia-positive (Ph(+)) ALL expressing a b3a3 type transcript, a rare type of BCR/ABL mRNA lacking ABL exon a2 sequences. Bone marrow showed a hypercellular marrow with leukemic blasts positive for CD10, CD19, CD79a, and cytoplasmic mu, which is consistent with pre-B ALL. The G-banding and fluorescence in situ hybridization analyses indicated Ph(+). After the patient was diagnosed with ALL-L2, induction chemotherapy was performed and imatinib mesylate was thereafter given as the maintenance therapy. Sequencing analysis showed deletion of ABL a2 in the polymerase chain reaction product, which corresponded to a b3a3 fusion transcript. To our knowledge, this is the second report of an aberrant BCR/ABL product lacking ABL exon a2 in childhood ALL.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Child
  • Chromosomes, Human, Pair 22
  • Chromosomes, Human, Pair 9
  • Cytogenetic Analysis
  • DNA Mutational Analysis
  • Exons / genetics
  • Fusion Proteins, bcr-abl / genetics*
  • Fusion Proteins, bcr-abl / metabolism
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / metabolism
  • Protein Isoforms / genetics
  • Protein Isoforms / metabolism
  • RNA, Messenger / genetics
  • Translocation, Genetic

Substances

  • Protein Isoforms
  • RNA, Messenger
  • Fusion Proteins, bcr-abl