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Nucleophosmin (NPM1) encodes a multifunctional nucleo-cytoplasmic shuttling protein that is predominantly localized in the nucleoli. NPM1 mutations have been described in adult acute myeloid leukemia (AML). They consist of net insertion of four nucleotides, affecting at least one of the tryptophan residues at amino acid position 288 or 290. NPM1 mutations are present in approximately 50-60% of adult cytogenetically normal AML(CN-AML) samples and confer a favorable clinical outcome in this subgroup. However, this favorable prognosis is lost in patients whose AML cells harbor both a mutation in NPM1 and an internal tandem duplication in the FLT3 gene (FLT3/ITD). Therefore, identification of mutations in NPM1 may assist in both prognostic and therapeutic purposes in patients with AML. The lab identifies mutations in the NPM1 gene by Sanger sequencing.
