Bone marrow neoplastic

Bone marrow - neoplastic myeloid

AML with recurrent genetic abnormalities

AML with t(6;9)(p23;q34); DEK::NUP214

Last author update: 1 February 2013
Last staff update: 28 April 2023

Copyright: 2001-2023,, Inc.

PubMed Search: AML with t(6;9)(p23;q34)

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Cite this page: Mihova D. AML with t(6;9)(p23;q34); DEK::NUP214 . website. Accessed June 4th, 2023.
Definition / general
  • Included in WHO 2008 classification under AML with recurrent genetic abnormalities
  • First identified by Rowley and Potter in 1976
  • 0.7 - 1.8% of AML
  • Occurs in both children and adults (2 - 66 years old), both sexes equally; median age children 13 years, adults 35 years
  • Associated with multilineage dysplasia and basophilia (> 2% in marrow and peripheral blood in 44 - 62% of cases)
  • In adults, median white blood cell count is 12x109/L, lower than other AML
  • In children, lower hemoglobin values and higher WBC counts than adults
  • Associated with dysplasia and a high frequency of FLT3 gene mutations (Am J Clin Pathol 2004;122:348)
Clinical features
  • Anemia, thrombocytopenia, blasts in peripheral blood
  • Often pancytopenia, fatigue, bleeding, DIC and increased incidence of infections
Prognostic features
  • Poor prognosis
  • < 50% remission after chemotherapy; often dead within 1 year after diagnosis (Leukemia 2006;20:1295)
  • Allogeneic hematopoietic stem cell transplantation
  • Minimal residual disease: monitor by real time RT-PCR (Leukemia 2005;19:1338)
  • Current clinical trials include anti-CD33 and FLT3 inhibitors
Microscopic (histologic) description
Positive stains
Molecular / cytogenetics description
  • t(6;9)(p23;q34) is often sole clonal abnormality; some have complex karyotype
  • t(6;9) produces chimeric fusion gene between DEK (6p23) and NUP214 (9q34; formerly known as CAN)
  • DEK-NUP214 fusion gene encodes a messenger RNA involved in leukemogenesis
  • Also FLT3-ITD (69% pediatric and 78% adult cases), often additional chromosomal abnormalities; FLT3-TDK uncommon
  • Patients with FLT3-ITD have higher WBC, higher bone marrow blasts and lower rates of complete remission
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