Molecular Diagnostics in Adult Acute Myeloid Leukemia

Annika M. Svensson, MD, PhD, Youjun Hu, MD


Acute myeloid leukemia (AML) is a clinically and pathogenetically heterogeneous group of hematopoietic malignancies. Diagnosis, treatment choices and prognosis of AML have evolved from depending on evaluation of morphological and cytochemical features to relying heavily on cytogenetic profiling of leukemic cells by chromosome karyotyping and fluorescence in situ hybridization (FISH). However, given that at least 40% of all adult patients with AML lack identifiable cytogenetical abnormalities, there is a strong interest clinically in refining risk assessment as well as defining possible new targets for treatment. We review here some of the well studied molecular markers employed in the stratification of AML with normal cytogenetics, including the Fms-Like Tyrosine Kinase 3 (FLT3), nucleophosmin-1 (NPM1) and CCAAT/enhancer binding protein-α (CEBPA) genes. We discuss other factors of potential interest, but less well characterized in the context of AML, including miRNA expression signatures. Technical aspects of molecular testing are also discussed.


acute myeloid leukemia, cytogenetics, molecular diagnostics

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