title: Two novel NPM1 mutations in a therapy-responder AML patient.
abstract: Nucleophosmin 1 (NPM1) is an abundant phosphoprotein mainly located in the nucleolus but also shuttling between the nucleus and cytoplasm. NPM1 has been proposed to be involved in synthesis and processing of ribosomal RNA, regulation of chromatin structure and transport of rRNA and ribosomal proteins. NPM1 gene is considered to be implicated in human cancer as it is a frequent target of genetic alterations, primarily in haematopoietic neoplasms. We describe a case of a therapy-responder acute myeloid leukaemia (AML) patient bearing two novel NPM1 mutations. Cells' transfection studies indicate that the presence of one of these mutations is associated to an abnormal nucleolar structure, suggesting that NPM1 may contribute to the control of nucleolar integrity.
authors: Dipartimento di Scienze e Tecnologie Biomediche, Facoltà di Medicina, Università di Udine, Udine, Italy.
authors: Annalisa
authors: A
authors: Pianta
authors: Dora
authors: D
authors: Fabbro
authors: Daniela
authors: D
authors: Damiani
authors: Mario
authors: M
authors: Tiribelli
authors: Renato
authors: R
authors: Fanin
authors: Alessandra
authors: A
authors: Franzoni
authors: Milena
authors: M
authors: Romanello
authors: Gianluca
authors: G
authors: Tell
authors: Carla
authors: C
authors: Di Loreto
authors: Giuseppe
authors: G
authors: Damante
mesh_terms: D002466:Cell Nucleolus / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000188:drug therapy / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D014162:Transfection
chemical_list: C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin