NUCLEOPHOSMIN PROTEIN (NPM) MUTANTS, CORRESPONDING GENE SEQUENCES AND USES THEREOF

摘要

The invention relates to new nucleophosmin protein (NPM) mutants, corresponding gene sequences and relative uses thereof for diagnosis, monitoring of minimal residual disease, prognostic evaluation and therapy of acute myeloid leukaemia (AML).

主权项

1. A method of determining whether a patient with acute myeloid leukemia will have a good response to induction therapy and/or a favorable prognosis, the method comprising
evaluating cells of the leukemia for the presence of a mutant human nucleophosmin protein (NPM) comprising a loss of a tryptophan residue at position 290 and comprising a signal motif of nuclear export (NES) beginning at position 287 of the human nucleophosmin protein, wherein the NES comprises the amino acid sequence YxxxYxxYxY (SEQ ID NO:56) wherein Y is a hydrophobic amino acid selected from the group consisting of leucine, isoleucine, methionine, valine, phenylalanine, and x can be any amino acid, wherein the presence of the mutant NPM is determined by (a) identifying the mutant NPM protein in the cells, or (b) identifying a nucleic acid encoding for the mutant NPM in the cells, wherein the presence of said NPM indicates that the patient will have a good response to induction therapy and/or a favorable prognosis.