title: Immunohistochemical Detection of NPM1 Mutation in Acute Myeloid Leukemia and its Association With Cup-like Nuclear Morphology of Blasts.
abstract: Blasts showing cup-like nuclei in acute myeloid leukemia (AML) have been identified in patients with nucleophosmin 1 gene (NPM1) mutation, that is, AML with cytoplasmic NPM (NPMc+ AML). We analyzed 100 consecutive cases of AML, and defined the cutoff percentages of cup-like blasts in peripheral blood and bone marrow aspirate smears that can predict NPMc+ AML. A lower cutoff level of ≥10% blasts in peripheral blood and ≥9% in bone marrow aspirate gave an excellent specificity for NPMc+ AML and a positive-predictive value of 90.9% and a negative-predictive value of 87.6% for NPMc+ AML. Cup-like nuclei were associated with higher total leukocyte count, higher blasts percentage, AML-M1 subtype, and human leukocyte antigen-DR region negativity. Our results suggest that cup-like nuclei represent an important morphologic clue that can predict NPMc+ AML and guide toward prioritizing the further workup of AML patients.
authors.affiliation: Departments of *Hematology †Internal Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Pulkit
authors.initials: P
authors.lastname: Rastogi
authors.forename: Shano
authors.initials: S
authors.lastname: Naseem
authors.forename: Neelam
authors.initials: N
authors.lastname: Varma
authors.forename: Subhash
authors.initials: S
authors.lastname: Varma
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002467:Cell Nucleus / Q000473:pathology*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin