Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia

Todd R. Golub, George F. Barker, Stefan K. Bohlander, Scott W. Hiebert, David C. Ward, Patricia Bray-Ward, Elaine R Morgan, Susana C. Raimondi, Janet D. Rowley, D. Gary Gilliland*

*Corresponding author for this work

Research output: Contribution to journalArticle

644 Scopus citations

Abstract

Chromosomal rearrangements involving band 12p13 are found in a wide variety of human leukemias but are particularly common in childhood acute lymphoblastic leukemia. The genes involved in these rearrangements, however, have not been identified. We now report the cloning of a t(12;21) translocation breakpoint involving 12p13 and 21q22 in two cases of childhood pre-B acute lymphoblastic leukemia, in which t(12;21) rearrangements were not initially apparent. The consequence of the translocation is fusion of the helix-loop-helix domain of TEL, an ETS-like putative transcription factor, to the DNA-binding anti transactivation domains of the transcription factor AML1. These data show that TEL, previously shown to be fused to the platelet- derived growth factor receptor β in chronic myelomonocytic leukemia, can be implicated in the pathogenesis of leukemia through its fusion to either a receptor tyrosine kinase or a transcription factor. The TEL-AML1 fusion also indicates that translocations affecting the AML1 gene can be associated with lymphoid, as well as myeloid, malignancy.

Original languageEnglish (US)
Pages (from-to)4917-4921
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Volume92
Issue number11
DOIs
StatePublished - May 23 1995

Keywords

  • ETS
  • chromosome 12
  • chromosome 21
  • transcription factors
  • translocation

ASJC Scopus subject areas

  • General

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    Golub, T. R., Barker, G. F., Bohlander, S. K., Hiebert, S. W., Ward, D. C., Bray-Ward, P., Morgan, E. R., Raimondi, S. C., Rowley, J. D., & Gilliland, D. G. (1995). Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia. Proceedings of the National Academy of Sciences of the United States of America, 92(11), 4917-4921. https://doi.org/10.1073/pnas.92.11.4917