Diagnosis | Medhub

In addition to routine physical examination and complete blood count, the following tests are performed to diagnose AML6:
 

Cytogenetic analysis- A mandatory element of the diagnostic workup to detect chromosomal abnormalities. Per the WHO, “AML with recurrent genetic abnormalities” comprises eight balanced translocations and inversions (and their variants); “AML with myelodysplasia-related features” is diagnosed, based on nine balanced rearrangements and several unbalanced abnormalities, when the blood or marrow blast count is ≥ 20%. 6
 

Morphology- On blood,≥ 200 leukocytes, and on marrow smears, ≥ 500 nucleated cells should be counted. AML is defined by a blast or marrow count ≥ 20% (except for AML with t(15;17), t(8;21), inv(16), or t(16;16)). 6
 

Immunophenotyping- Generally, in the disease, ≥ 20% of leukemic cells express markers of AML— typically, early hematopoiesis-associated antigens but not markers of myeloid and monocytic maturation. 6
 

Screening for genetic mutations- Patients should be tested for mutations in6:

• NPM1, CEPBA, and RUNX1, which define disease categories
• FLT3 activating mutations (both ITD & TKD) of which have prognostic value and can be targeted by tyrosine kinase inhibitors  <hyperlink to article 1A - FLT3 Diagnosis>
• TP53 and ASXL1, which are associated with a poor prognosis

 

 
References
1. De Kouchkovsky I, Abdul-Hay M. Blood Cancer J. 2016 Jul;6(7):e441.
2. American Cancer Society. Acute myeloid leukemia [Internet]. [cited 2019 Feb 21] Available from: https://www.cancer.gov/types/leukemia/hp/adult-aml-treatment-pdq.
3. Surveillance Epidemiology and End Results (SEER). SEER stat fact sheets: acute myeloid leukemia [Internet]. [cited 2019 Feb 21] Available from: http://seer.cancer.gov/statfacts/html/amyl.html.
4. G Juliusson, J Abrahamsson, V Lazarevic, et al., for the Swedish AML Group and the Swedish Childhood Leukemia Group. Leukemia. 2017 Mar; 31(3): 728–731.
5. Lin et al.  Clin Med Insights Oncol. 2012; 6:205-217  
6. Döhner H, Estey E, Grimwade D, Amadori S, Appelbaum FR, Büchner T, et al. Blood. 2017 Jan;129(4):424-47.
7. National Cancer Institute. Adult acute myeloid leukemia treatment (PDQ®)-Patient Version. http://www.cancer.gov/types/leukemia/patient/adult-aml-treatment-pdq
8. Rydapt (midostaurin) Summary of Prodcut Characteristics
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