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Atypical Chronic Myeloid Leukemia

Pathophysiology
Patients with aCML have been shown to harbor novel, nonrandom chromosomal translocations. Similar to the fusion of genes encoding Bcr and Abl in chronic myeloid leukemia, the gene encoding the intracellular tyrosine kinase Abl has been shown to be fused to TEL in patients with aCML.1 Further, although the ETV6-Abl fusion gene is usually associated with acute leukemic disease, the presence of this fusion gene has also been reported in cases of aCML.2,3


References:
  1. Papadopoulos P, Ridge SA, Boucher CA, Stocking C, Wiedmann LM. The novel activation of ABL by fusion to an ets-related gene, TEL. Cancer Res. 1995;55:34-38.
  2. Andreasson P, Johansson B., Carlsson M, et al. BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion. Genes Chromosomes Cancer. 1997;20:299-304.
  3. Barbouti AT, Ahlgren T, Johansson B, et al. Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate. Br J Haematol. 2003;122:85-93.
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