Abstract

AMOR-VIGIL, Ana María et al. AML-1/ETO fusion gene and mutation NPM-1A in myeloid chronic leukemia in myeloid blast crisis. Rev Cubana Hematol Inmunol Hemoter [online]. 2015, vol.31, n.1, pp. 71-78. ISSN 1561-2996.

Chronic myeloid leukemia is a clonal myeloproliferative neoplasm which generally and progressively goes through three phases: chronic, accelerated and blast crisis. About 80 % of patients with chronic myeloid leukemia are diagnosed in chronic phase, 10 % in accelerated phase and 10 % in blast crisis. The presence of Philadelphia chromosome and the formation of BCR/ABL fusion gene, resulting in the chimeric protein p^BCR/ABL, generates a large genomic instability and the acquisition of additional chromosomal and molecular alterations. Some molecular alterations, which are usually present in other hematological malignancies, could be acquired during the progression of chronic myeloid leukemia to blast crisis. This report presents the case of a patient with de novo chronic myeloid leukemia in blast crisis, with positivity of BCR/ABL fusion gene, AML-1/ETO fusion gene and mutation NPM-1A.

Keywords : AML-1/ETO fusion gene; mutation NPM-1A; chronic myeloid leukemia; blast crisis.

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