NPM1-A mutation in cuban patients with acute myeloid leukemia, its coexistence with other molecular disorders

[摘要] In 2005 the frequent detection of nucleophosmin-1 (NPM1) gene mutation in acute myeloid leukemia (AML) was reported for the first time. At present, this represents the most frequent gene alteration in AML which has demonstrated prognostic significance. The most common NPM1 mutation type appearing in 75 - 80 % of the patients, is the NPM1-A. Through an allele-specific RT-PCR assay the NPM1-A was studied in 32 AML Cuban patients at the onset of the disease. RNA samples conserved a -20°C were used. Eleven patients (34,4%) showed NPM1-A. Among the NPM1-A positives patients, one presented two additional molecular disorders: the AML1-ETO fusion gen and the FLT3 internal tandem duplication (FLT3-ITD). In other patient, NPM1-A was concomitant to FLT3-ITD and in a third one, the AML1-ETO fusion gen was found besides NPM1-A.  An extended study will allow to correlate NPM1-A mutation and outcome disease, and will let us know the interaction with other molecular markers.

[学科分类] 生理学与病理学

[关键词] NPM1-A mutation;acute myeloid leukemia;FLT3-ITD