Preferred Label : NPM1 Gene Alteration Positive;
NCIt synonyms : Nucleophosmin Gene Alteration Positive; Nucleophosmin 1 Gene Alteration; Nucleophosmin 1 Gene Alteration Positive;
NCIt definition : An indication that mutation (including nucleotide insertions or deletions), overexpression,
or rearrangement of the NPM1 gene has been detected in a sample.;
NCIt note : A 4- or 9-base nucleotide insertion in exon 12 of the NPM1 gene results in aberrant
cytoplasmic expression of the protein and is associated with acute myeloid leukemia
(AML).;
NCI Metathesaurus CUI : CL1663627;
Origin ID : C180930;
UMLS CUI : C5556725;
Semantic type(s)
- concept_is_in_subset
- related_to_genetic_biomarker
