Vnitr Lek 2021, 67(5):e09-e12 | DOI: 10.36290/vnl.2021.081

Preleukemic fusion genes typical for acute myeloid leukemia

Daniela Klimová¹, Jakub Styk¹, Michal Svoboda¹, Simona Humplíková^{1, 2}, Vanda Repiská¹

¹ Univerzita Komenského v Bratislave, Lekárska fakulta, Ústav lekárskej biológie, genetiky a klinickej genetiky, Bratislava

² Klinika anestéziológie a intenzívnej medicíny, Nemocnica Ružinov, Bratislava

Acute myeloid leukemia (AML) is a highly heterogeneous subtype of leukemia, accounting for 25 % of childhood leukemias. By the presence of genetic mutations in hematopoietic/ progenitor stem cells, the bone marrow produces a large number of abnormal undifferentiated leukocytes (blasts), which significantly impairs the proper differentiation of cells. AML is induced by two interventions. Chromosomal translocation during hematopoiesis of intrauterine development is the first intervention. This creates preleukemic fusion genes (PFG), which can later be transformed by a second intervention (point genetic mutation - deletion, insertion …) into a functional malignant clone. Characteristic AML fusion genes include AML1-ETO, PML-RARA or MLL-AF9, which in turn produce hybrid proteins with altered function. Several studies suggest that these PFGs are considered an important prognostic tool in disease assessment. While the incidence of PFG characteristic of acute lymphoblastic leukemia (ALL) has been relatively well studied by several research groups and has been estimated at 1 to 5% in the umbilical cord blood of healthy neonates, PFG relevant to AML are still not sufficiently clarified.

Keywords: acute myeloid leukemia, AML1-ETO, MLL-AF9, PML-RARA, preleukemic fusion genes.

Published: August 25, 2021  Show citation