NUP214 in Acute Myeloid Leukemia.

Nucleoporin 214 (NUP214) is a component of the nucleopore molecular complex, but in addition to this role in nucleocytoplasmic transport it is also involved in the regulation of gene transcription/translation, intracellular signaling, cell cycle progression and programmed cell death. Several uncommon translocations associated with acute myeloid leukemia (AML) involve the gene, and the corresponding fusion proteins are involved in leukemic transformation. First, the t(6;9) translocation encodes the DEK-NUP214 fusion protein; this translocation is seen in 1-2% of AML patients and is associated with an adverse prognosis that is improved by allogeneic stem cell transplantation. Second, the fusion gene is less common in AML and is formed either by del(9)(q34.11q34.13) or a balanced t(9;9)(q34;q34). This AML variant shows several biological similarities with the variant, but the possible prognostic impact of this fusion protein is not known. Finally, the and especially the fusions are very uncommon, and only a few case reports have been published. In this article, we review the functions of the genes/proteins formed by these fusion genes, the available studies of molecular mechanisms and biological functions for each fusion protein, the characteristics of the corresponding AML cells, the clinical characteristics of these patients and the possible prognostic impact of the fusion genes/proteins.