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t(6;9)(p23;q34)

Monday 2 January 2012

Pathology

- DEK-NUP214 (CAN-DEK) fusion gene

  • The t(6;9)(p23;q34) associated DEK/CAN (CAN-DEK) fusion protein targets a population of long-term repopulating hematopoietic stem cells for leukemogenic transformation. (#20827285#)

- Acute myelogenous leukemia (AML) with chromosomal translocation t(6;9)(p23;q34) is a rare disease with poor prognosis and distinct clinical and morphologic features.

  • t(6;9) results in a chimeric fusion gene between DEK (6p23) and CAN/NUP214 (9q34).
  • t(6;9) is most commonly associated with AML-FAB-M2 and is considered by some researchers to be a separate disease entity because of its distinct clinical and morphologic features and poor prognostic implication.
  • Distinct morphologic features of this entity include marrow basophilia and myelodysplasia, and immunophenotypically, the blast cells are positive for CD9, CD13, CD33, and HLA-DR; are usually positive for CD45 and CD38; and may be positive for CD15, CD34, and terminal deoxynucleotidyl transferase.

References

- The t(6;9) associated DEK/CAN fusion protein targets a population of long-term repopulating hematopoietic stem cells for leukemogenic transformation. Oancea C, RĂ¼ster B, Henschler R, Puccetti E, Ruthardt M. Leukemia. 2010 Nov;24(11):1910-9. PMID: #20827285#