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Leukemia - Acute

Recurrent genetic abnormalities

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

Reviewer: Daniela Mihova, M.D. (see Reviewers page)
Revised: 17 February 2013, last major update September 2012
Copyright: (c) 2001-2013, PathologyOutlines.com, Inc.


● 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

Micro description

● 20%+ blasts; intermediate features between AML with maturation (AML-M2), acute promyelocytic leukemia (APL) and acute myelomonocytic leukemia (AML-M4)
● Often ringed sideroblasts (Am J Clin Pathol 1997;107:430)
● Unilineage or multilineage dysplasia (67%, Arch Pathol Lab Med 2008;132:1835)

Positive stains

● CD9, CD13, CD15, CD33, CD34 (92%), CD38, CD64 subset, CD117, HLA-DR, TdT (50%)

Molecular 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, Atlas of Genetics and Cytogenetics)
● 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

Molecular images


Karyotype - bottom row

End of Leukemia - Acute > Recurrent genetic abnormalities > AML with t(6;9)(p23;q34)

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