title: Nucleophosmin gene-based monitoring in de novo cytogenetically normal acute myeloid leukemia with nucleophosmin gene mutations: comparison with cytofluorimetric analysis and study of Wilms tumor gene 1 expression.
abstract: We compared the clinical value of minimal residual disease (MRD) monitoring by cytofluorimetric methods, Wilms tumor gene 1 (WT1) expression and the study of nucleophosmin gene (NPM) mutations in a series of 26 patients with NPM-mutated de novo acute myeloid leukemia (NPM-AML) who achieved complete hematological remission after conventional chemotherapy. The relapse risk was significantly lower only in patients achieving a NPM molecular complete response (NPM mol-CR) and confirmed NPM mol-CR (non-detectable NPM mutations in two consecutive marrow samples). The disease-free survival (DFS) of patients achieving a < 4-log or ≥ 4-log reduction in NPM value after induction therapy was 12.6 % and 50%, respectively, at 36 months (p = 0.009). The attainment of a confirmed NPM-CR had a significant influence on overall survival (OS at 36 months was 64.3% and 11.9% in patients obtaining or not obtaining confirmed NPM-CR, respectively, p < 0.03). We confirm that NPM-molecular relapse (NPM-rel) is always followed by hematological relapse (H-rel), but longitudinal studies of NPM mutations may predict an impending H-rel earlier than flow cytometric- or WT1-based methods.
authors.affiliation: Department of Hematology and Oncology , IRCCS Azienda Ospedaliera Universitaria S. Martino-IST, Genova, Italy. ematlab@unige.it
authors.forename: Maurizio
authors.initials: M
authors.lastname: Miglino
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Colombo
authors.forename: Raffaella
authors.initials: R
authors.lastname: Grasso
authors.forename: Carlo
authors.initials: C
authors.lastname: Marani
authors.forename: Marino
authors.initials: M
authors.lastname: Clavio
authors.forename: Gian Matteo
authors.initials: GM
authors.lastname: Pica
authors.forename: Filippo
authors.initials: F
authors.lastname: Ballerini
authors.forename: Chiara
authors.initials: C
authors.lastname: Ghiggi
authors.forename: Paola
authors.initials: P
authors.lastname: Minetto
authors.forename: Fabio
authors.initials: F
authors.lastname: Guolo
authors.forename: Angelo Michele
authors.initials: AM
authors.lastname: Carella
authors.forename: Marco
authors.initials: M
authors.lastname: Gobbi
mesh_terms: D000328:Adult; D000368:Aged; D018572:Disease-Free Survival; D005434:Flow Cytometry; D016162:Genes, Wilms Tumor; D006801:Humans; D016130:Immunophenotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000401:mortality; D008875:Middle Aged; D009154:Mutation; D018365:Neoplasm, Residual; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin
chemical_list: C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin