title: Cell line OCI/AML3 bears exon-12 NPM gene mutation-A and cytoplasmic expression of nucleophosmin.
abstract: We recently identified a new acute myeloid leukemia (AML) subtype characterized by mutations at exon-12 of the nucleophosmin (NPM) gene and aberrant cytoplasmic expression of NPM protein (NPMc+). NPMc+ AML accounts for about 35% of adult AML and it is associated with normal karyotype, wide morphological spectrum, CD34-negativity, high frequency of FLT3-ITD mutations and good response to induction therapy. In an attempt to identify a human cell line to serve as a model for the in vitro study of NPMc+ AML, we screened 79 myeloid cell lines for mutations at exon-12 of NPM. One of these cell lines, OCI/AML3, showed a TCTG duplication at exon-12 of NPM. This mutation corresponds to the type A, the NPM mutation most frequently observed in primary NPMc+ AML. OCI/AML3 cells also displayed typical phenotypic features of NPMc+ AML, that is, expression of macrophage markers and lack of CD34, and the immunocytochemical hallmark of this leukemia subtype, that is, the aberrant cytoplasmic expression of NPM. The OCI/AML3 cell line easily engrafts in NOD/SCID mice and maintains in the animals the typical features of NPMc+ AML, such as the NPM cytoplasmic expression. For all these reasons, the OCI/AML3 cell line represents a remarkable tool for biomolecular studies of NPMc+ AML.
authors.affiliation: DSMZ-German Collection of Microorganisms and Cell Cultures, Braunschweig, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Quentmeier
authors.forename: M P
authors.initials: MP
authors.lastname: Martelli
authors.forename: W G
authors.initials: WG
authors.lastname: Dirks
authors.forename: N
authors.initials: N
authors.lastname: Bolli
authors.forename: A
authors.initials: A
authors.lastname: Liso
authors.forename: R A F
authors.initials: RA
authors.lastname: Macleod
authors.forename: I
authors.initials: I
authors.lastname: Nicoletti
authors.forename: R
authors.initials: R
authors.lastname: Mannucci
authors.forename: A
authors.initials: A
authors.lastname: Pucciarini
authors.forename: B
authors.initials: B
authors.lastname: Bigerna
authors.forename: M F
authors.initials: MF
authors.lastname: Martelli
authors.forename: C
authors.initials: C
authors.lastname: Mecucci
authors.forename: H G
authors.initials: HG
authors.lastname: Drexler
authors.forename: B
authors.initials: B
authors.lastname: Falini
mesh_terms: D000818:Animals; D018952:Antigens, CD34 / Q000378:metabolism; D015415:Biomarkers / Q000378:metabolism; D003593:Cytoplasm / Q000378:metabolism; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D015973:Gene Expression Regulation, Leukemic; D006801:Humans; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics* / Q000378:metabolism; D008264:Macrophages / Q000378:metabolism; D008297:Male; D051379:Mice; D016688:Mice, Inbred NOD; D016513:Mice, SCID; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D000090243:Nucleophosmin
chemical_list: D018952:Antigens, CD34; D015415:Biomarkers; C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin