BCR-ABL fusion transcript types and levels and their interaction with secondary genetic changes in determining the phenotype of Philadelphia chromosome-positive leukemias

Blood. 2008 Dec 15;112(13):5190-2. doi: 10.1182/blood-2008-04-148791. Epub 2008 Sep 22.

Abstract

It remains unresolved how different BCR-ABL transcripts differentially drive lymphoid and myeloid proliferation in Philadelphia chromosome-positive (Ph(+)) leukemias. We compared BCR-ABL transcript type and level with kinase domain (KD) mutation status, genotype, and phenotype in 1855 Ph(+) leukemias. Compared with e1a2/p190 BCR-ABL cases, de novo e13-e14a2/p210 Ph(+) lymphoid leukemia more frequently showed CML-type background, had higher blast-normalized BCR-ABL transcript levels, and more frequent persistent BCR-ABL transcript in the absence of detectable lymphoblasts. Secondary lymphoid blast transformation of CML was exclusively due to e13/e14a2/p210 BCR-ABL but was associated, at a much higher level than p210 myeloid transformation, with acquisition of new KD mutations and/or Ph genomic amplification. In contrast, myeloid blast transformation was more frequently accompanied by new acquisition of acute myeloid leukemia-type chromosomal aberrations, particularly involving the EVI1 and RUNX1 loci. Therefore, higher kinase activity by mutation, transcriptional up-regulation or gene amplification appears required for lymphoid transformation by p210 BCR-ABL.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Cell Transformation, Neoplastic
  • Chromosome Aberrations
  • Core Binding Factor Alpha 2 Subunit / genetics
  • DNA-Binding Proteins / genetics
  • Fusion Proteins, bcr-abl / genetics*
  • Gene Amplification
  • Genotype
  • Humans
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive
  • MDS1 and EVI1 Complex Locus Protein
  • Mutation
  • Phenotype
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma
  • Proto-Oncogenes / genetics
  • RNA, Messenger / analysis
  • RNA, Neoplasm / analysis*
  • Transcription Factors / genetics

Substances

  • Core Binding Factor Alpha 2 Subunit
  • DNA-Binding Proteins
  • MDS1 and EVI1 Complex Locus Protein
  • MECOM protein, human
  • RNA, Messenger
  • RNA, Neoplasm
  • RUNX1 protein, human
  • Transcription Factors
  • Fusion Proteins, bcr-abl