Cytoplasmic nucleophosmin is not detected in blastic plasmacytoid dendritic cell neoplasm.

Abstract:

:Acute myeloid leukemia carrying cytoplasmic mutated nucleophosmin (NPMc(+) AML) and blastic plasmacytoid dendritic cell neoplasm have been included as new entities in the 4(th) edition (2008) WHO classification of myeloid neoplasms. These conditions may show clinical and pathological overlapping features (leukemic and skin involvement, and expression of macrophage markers). In this study, we provide evidence that aberrant cytoplasmic dislocation of nucleophosmin - the immunohistochemical surrogate for NPM1 mutations - allows the two entities to be genetically separated. In fact, nucleophosmin is consistently cytoplasmic in NPMc(+) AML (because of the presence of NPM1 mutations), whilst it is nucleus-restricted (predictive of a germline NPM1 gene) in blastic plasmacytoid dendritic cell neoplasm. Our results clearly point cytoplasmic nucleophosmin (a full predictor of NPM1 mutations) as a new marker for distinguishing NPMc(+) AML and blastic plasmacytoid dendritic cell neoplasm, further clarify the cell of origin of NPMc(+) AML, and justify the inclusion of these pathological conditions as separate entities in the new WHO classification.

journal_name

Haematologica

journal_title

Haematologica

authors

Facchetti F,Pileri SA,Agostinelli C,Martelli MP,Paulli M,Venditti A,Martelli MF,Falini B

doi

10.3324/haematol.13855

subject

Has Abstract

pub_date

2009-02-01 00:00:00

pages

285-8

issue

2

eissn

0390-6078

issn

1592-8721

pii

haematol.13855

journal_volume

94

pub_type

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