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

Golub TR, Barker GF, Bohlander SK, Hiebert SW, Ward DC, Bray-Ward P, Morgan E, Raimondi SC, Rowley JD, Gilliland DG
Proc Natl Acad Sci U S A. 1995 92 (11): 4917-21

PMID: 7761424 · PMCID: PMC41818 · DOI:10.1073/pnas.92.11.4917

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 and transactivation domains of the transcription factor AML1. These data show that TEL, previously shown to be fused to the platelet-derived growth factor receptor beta 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.

MeSH Terms (25)

Amino Acid Sequence Base Sequence Blotting, Southern Bone Marrow Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 21 Cloning, Molecular Core Binding Factor Alpha 2 Subunit DNA-Binding Proteins DNA Primers Gene Rearrangement Helix-Loop-Helix Motifs Humans Karyotyping Molecular Sequence Data Neoplasm Proteins Oncogene Proteins, Fusion Polymerase Chain Reaction Precursor Cell Lymphoblastic Leukemia-Lymphoma Proto-Oncogene Proteins Proto-Oncogene Proteins c-ets Repressor Proteins Transcription Factors

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