Abstract

GARROTE SANTANA, Heidys et al. AML1-ETO fusion gen: characteristics in acute myeloid leukemia. Rev Cubana Hematol Inmunol Hemoter [online]. 2014, vol.30, n.2, pp. 98-107. ISSN 0864-0289.

Acute myeloid leukemia (AML) is a heterogeneous bone marrow malignancy where patients with the cytogenetic t(8;21) abnormality represent a subset with specific clinical and biological characteristics. The translocation results in an in-frame fusion of two genes, resulting in a fusion protein of one N-terminal domain from the AML1 gene and four C-terminal domains from the ETO gene. This protein has multiple effects on the regulation of the proliferation, the differentiation and the viability of leukemic cells. The translocation can be detected as the only genetic abnormality or as part of more complex abnormalities. In contrast to other AML patients, the diagnosis of t(8;21) AML can be made even when less than 20 % leukemic blasts are present in the bone marrow. The leukemic cells show specific global gene expression and microRNA profiles; and usually there is a low risk of leukemia relapse after high-dose cytarabine therapy.

Keywords : acute myeloid leukemia; cytogenetic t(8;21) abnormality; AML1-ETO.

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