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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.
AuthorsH Quentmeier, M P Martelli, W G Dirks, N Bolli, A Liso, R A F Macleod, I Nicoletti, R Mannucci, A Pucciarini, B Bigerna, M F Martelli, C Mecucci, H G Drexler, B Falini
JournalLeukemia (Leukemia) Vol. 19 Issue 10 Pg. 1760-7 (Oct 2005) ISSN: 0887-6924 [Print] England
PMID16079892 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Antigens, CD34
  • Biomarkers
  • NPM1 protein, human
  • Nuclear Proteins
  • Nucleophosmin
Topics
  • Animals
  • Antigens, CD34 (metabolism)
  • Biomarkers (metabolism)
  • Cytoplasm (metabolism)
  • DNA Mutational Analysis
  • Exons (genetics)
  • Gene Expression Regulation, Leukemic
  • Humans
  • Karyotyping
  • Leukemia, Promyelocytic, Acute (genetics, metabolism)
  • Macrophages (metabolism)
  • Male
  • Mice
  • Mice, Inbred NOD
  • Mice, SCID
  • Middle Aged
  • Mutation (genetics)
  • Nuclear Proteins (genetics, metabolism)
  • Nucleophosmin

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