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Editorial
. 2010 Apr;95(4):529-34.
doi: 10.3324/haematol.2009.017822.

Molecular and alternative methods for diagnosis of acute myeloid leukemia with mutated NPM1: flexibility may help

Brunangelo Falini, Maria Paola Martelli, Stefano A Pileri, Cristina Mecucci
Editorial

Molecular and alternative methods for diagnosis of acute myeloid leukemia with mutated NPM1: flexibility may help

Brunangelo Falini et al. Haematologica. 2010 Apr.
No abstract available

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Figures

Figure 1.
Figure 1.
Configuration of the normal NPM1 gene. NPM1 mutations in AML occur almost exclusively at exon-12 (asterisk). (A – F) The first 6 discovered mutations. Mutation A is the most frequent (75–80% of cases). All NPM1 mutations (about 50 so far identified) result in common changes at the C-terminus end (asterisk) of the NPM1 protein, i.e. changes of tryptophans (288 and 290) and insertion of a new nuclear export signal (NES) motif. These changes cause aberrant cytoplasmic accumulation of NPM1 mutants which is easily detectable by immunohistochemistry (see Figure 2). This figure is provided by the Author (BF) and was originally reported in the 2008 WHO classification.
Figure 2.
Figure 2.
Detection of cytoplasmic nucleophosmin by immunohistochemistry (bone marrow trephines, paraffin sections). (A) AML with mutated NPM1. Marrow infiltration by myeloid blasts admixed with megakaryocytes (double arrows) and erythroid precursors (single arrow). T indicates a bone trabecula (hematoxylin-eosin; x1,000). (B) Myeloid blasts, megakaryocytes (double arrows) and erythroid precursors show aberrant cytoplasmic expression of nucleophosmin (multilineage involvement) (APAAP technique; x1,000). T indicates a bone trabecula. (C) Myeloid blasts, as well as megakaryocytes (double arrows) and erythroid precursors (single arrow) belonging to the leukemic clone, are CD34-negative (APAAP technique; x1,000). (B and C) Hematoxylin counterstaining.
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References

    1. Lowenberg B. Acute myeloid leukemia: the challenge of capturing disease variety. Hematology Am Soc Hematol Educ Program. 2008:1–11. - PubMed
    1. Falini B, Mecucci C, Tiacci E, Alcalay M, Rosati R, Pasqualucci L, et al. Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med. 2005;352(3):254–66. - PubMed
    1. Alcalay M, Tiacci E, Bergomas R, Bigerna B, Venturini E, Minardi SP, et al. Acute myeloid leukemia bearing cytoplasmic nucleophosmin (NPMc+ AML) shows a distinct gene expression profile characterized by up-regulation of genes involved in stem-cell maintenance. Blood. 2005;106(3):899–902. - PubMed
    1. Falini B, Nicoletti I, Martelli MF, Mecucci C. Acute myeloid leukemia carrying cytoplasmic/mutated nucleophosmin (NPMc+ AML): biologic and clinical features. Blood. 2007;109(3):874–85. - PubMed
    1. Garzon R, Garofalo M, Martelli MP, Briesewitz R, Wang L, Fernandez-Cymering C, et al. Distinctive microRNA signature of acute myeloid leukemia bearing cytoplasmic mutated nucleophosmin. Proc Natl Acad Sci USA. 2008;105(10):3945–50. - PMC - PubMed