Table of Contents
Definition / general | Clinical features | Prognostic features | Treatment | Microscopic (histologic) description | Positive stains | Molecular / cytogenetics descriptionCite this page: Mihova D. AML with t(6;9)(p23;q34); DEK::NUP214 . PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/leukemiaAMLt69.html. Accessed April 19th, 2024.
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)
Treatment
- 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
- 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)
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
