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

Journal Article · · Proceedings of the National Academy of Sciences of the United States of America
OSTI ID:75385
; ;  [1]; ;  [2]; ;  [3]; ;  [4];  [5]
  1. Harvard Medical School, Boston, MA (United States)
  2. Univ. of Chicago, IL (United States)
  3. St. Jude Children`s Research Hospital, Memphis, TN (United States)
  4. Yale Univ., New Haven, CT (United States)
  5. Children`s Memorial Hospital, Chicago, IL (United States)

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. 23 refs., 5 figs.

DOE Contract Number:
FG02-86ER60408
OSTI ID:
75385
Journal Information:
Proceedings of the National Academy of Sciences of the United States of America, Journal Name: Proceedings of the National Academy of Sciences of the United States of America Journal Issue: 11 Vol. 92; ISSN PNASA6; ISSN 0027-8424
Country of Publication:
United States
Language:
English

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