The BCR-ABL1 kinase bypasses selection for the expression of a pre-B cell receptor in pre-B acute lymphoblastic leukemia cells

J Exp Med. 2004 Mar 1;199(5):673-85. doi: 10.1084/jem.20031637.

Abstract

The BCR-ABL1 kinase expressed in acute lymphoblastic leukemia (ALL) drives malignant transformation of human pre-B cells. Comparing genome-wide gene expression profiles of BCR-ABL1+ pre-B ALL and normal bone marrow pre-B cells by serial analysis of gene expression, many genes involved in pre-B cell receptor signaling are silenced in the leukemia cells. Although normal pre-B cells are selected for the expression of a functional pre-B cell receptor, BCR-ABL1+ ALL cells mostly do not harbor a productively rearranged IGH allele. In these cases, we identified traces of secondary VH gene rearrangements, which may have rendered an initially productive VH region gene nonfunctional. Even BCR-ABL1+ ALL cells harboring a functional VH region gene are unresponsive to pre-B cell receptor engagement and exhibit autonomous oscillatory Ca2+ signaling activity. Conversely, leukemia subclones surviving inhibition of BCR-ABL1 by STI571 restore responsiveness to antigen receptor engagement and differentiate into immature B cells expressing immunoglobulin light chains. BCR-ABL1 kinase activity is linked to defective pre-B cell receptor signaling and the expression of a truncated isoform of the pre-B cell receptor-associated linker molecule SLP65. Also in primary leukemia cells, truncated SLP65 is expressed before but not after treatment of the patients with STI571. We conclude that inhibition of BCR-ABL1 reconstitutes selection for leukemia cells expressing a functional (pre-) B cell receptor.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adolescent
  • Adult
  • Aged
  • Base Sequence
  • Carrier Proteins / genetics
  • Child
  • Child, Preschool
  • DNA, Neoplasm / genetics
  • Female
  • Fusion Proteins, bcr-abl
  • Gene Expression
  • Gene Rearrangement, B-Lymphocyte, Heavy Chain
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Middle Aged
  • Phosphoproteins / genetics
  • Pre-B Cell Receptors
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / enzymology
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / immunology*
  • Protein-Tyrosine Kinases / genetics*
  • Receptors, Antigen, B-Cell
  • Selection, Genetic

Substances

  • Adaptor Proteins, Signal Transducing
  • B cell linker protein
  • Carrier Proteins
  • DNA, Neoplasm
  • Membrane Glycoproteins
  • Phosphoproteins
  • Pre-B Cell Receptors
  • Receptors, Antigen, B-Cell
  • Protein-Tyrosine Kinases
  • Fusion Proteins, bcr-abl