Breakage and fusion of the TEL (ETV6) gene in immature B lymphocytes induced by apoptogenic signals

Blood. 2001 Feb 1;97(3):737-43. doi: 10.1182/blood.v97.3.737.

Abstract

TEL-AML1 fusion resulting from the t(12;21)(p13;q22) is one of the most common genetic abnormalities in childhood acute lymphoblastic leukemia. Recent findings that site-specific cleavage of the MLL gene can be induced by chemotherapeutic agents such as topoisomerase-II inhibitors suggest that apoptogenic agents can cause chromosomal translocations in hematopoietic cells. This study demonstrates a possible relationship between exposure to apoptogenic stimuli, TEL breaks, and the formation of TEL-AML1 fusion in immature B lymphocytes. Short-term culture of immature B cell lines in the presence of apoptogenic stimuli such as serum starvation, etoposide, or salicylic acid induced double-strand breaks (DSBs) in intron 5 of the TEL gene and intron 1 of the AML1 gene. TEL-AML1 fusion transcripts were also identified by reverse transcriptase-polymerase chain reaction (RT-PCR) analysis in cell lines treated by serum starvation or aminophylline. DSBs within the TEL gene were also associated with fusion to other unknown genes, presumably as a result of chromosomal translocation. We also examined 67 cord blood and 147 normal peripheral blood samples for the existence of in-frame TEL-AML1 fusion transcripts. One cord blood sample (1.5%) and 13 normal peripheral blood samples (8.8%) were positive as detected by nested RT-PCR. These data suggest that breakage and fusion of TEL and AML1 may be relatively common events and that sublethal apoptotic signals could play a role in initiating leukemogenesis via the promotion of DNA damage.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aminophylline / pharmacology
  • Apoptosis*
  • B-Lymphocytes / drug effects
  • B-Lymphocytes / metabolism
  • B-Lymphocytes / ultrastructure*
  • Base Sequence
  • Chromosome Breakage*
  • Chromosome Mapping
  • Core Binding Factor Alpha 2 Subunit
  • Culture Media, Serum-Free / pharmacology
  • Etoposide / pharmacology
  • Humans
  • Hydrogen Peroxide / pharmacology
  • Infant, Newborn
  • Molecular Sequence Data
  • Oncogene Proteins, Fusion / biosynthesis
  • Oncogene Proteins, Fusion / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / metabolism
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / pathology
  • RNA, Messenger / biosynthesis
  • Salicylic Acid / pharmacology
  • Transcription, Genetic
  • Translocation, Genetic
  • Tumor Cells, Cultured

Substances

  • Core Binding Factor Alpha 2 Subunit
  • Culture Media, Serum-Free
  • Oncogene Proteins, Fusion
  • RNA, Messenger
  • TEL-AML1 fusion protein
  • Aminophylline
  • Etoposide
  • Hydrogen Peroxide
  • Salicylic Acid