Back to results
US 2025/0154599 A1Published application
Nucleophosmin protein (npm) mutants, corresponding gene sequences and uses thereof
OwnerBrunangelo Falini, Cristina Mecucciinventors
Life of this patent
Estimating the term…
Abstract
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).
Claims20
A method comprising
- detecting, in a sample of nucleic acids, a nucleic acid that encodes one or more mutations in exon 12 of an NPM gene, wherein the nucleic acid comprises an exon 12 sequence coding for position 290 of human nucleophosmin protein (NPM) that results in a loss of a tryptophan residue at position 290,
- wherein the detecting comprises identifying the nucleic acid using
- (a) oligonucleotide primers in a polymerase chain reaction assay that amplifies the nucleic acid but does not substantially amplify a nucleic acid encoding a wild-type NPM, and/or
- (b) an oligonucleotide probe that binds to a nucleic acid encoding the one or more mutations but not to a wild-type NPM.
1 more element
A method comprising
- detecting, in a sample of nucleic acids, a nucleic acid that encodes one or more mutations in exon 12 of an NPM gene, wherein the nucleic acid encodes a signal motif of nuclear export (NES) in the C-terminal region of the NPM gene,
- wherein said detecting comprises identifying the nucleic acid using
- (a) oligonucleotide primers in a polymerase chain reaction assay that amplifies a nucleic acid encoding the one or more mutations but does not substantially amplify a nucleic acid encoding a wild-type NPM, and/or
- (b) an oligonucleotide probe that binds, in a hybridization assay, to a nucleic acid encoding the one or more mutations but not to a wild-type NPM.
1 more element
Dependencies are inferred from the claim text.