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A Curious Novel Combination of Nucleophosmin (NPM1) Gene Mutations Leading to Aberrant Cytoplasmic Dislocation of NPM1 in Acute Myeloid Leukemia (AML).

Genes - 16 Sept 2021

Venanzi Alessandra, Rossi Roberta, Martino Giovanni, Annibali Ombretta, Avvisati Giuseppe, Mameli Maria Grazia, Sportoletti Paolo, Tiacci Enrico, Falini Brunangelo, Martelli Maria Paola

Abstract excerpt

Nucleophosmin (NPM1) mutations occurring in acute myeloid leukemia (AML) (about 50 so far identified) cluster almost exclusively in exon 12 and lead to common changes at the NPM1 mutants C-terminus, i.e., loss of tryptophans 288 and 290 (or 290 alone) and creation of a new nuclear export signal (NES), at the bases of exportin-1(XPO1)-mediated aberrant cytoplasmic NPM1. Immunohistochemistry (IHC) detects...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Leukemia, Myeloid, Acute

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Identifiers

PMID: 34573408
DOI: 10.3390/genes12091426
PMCID: PMC8468273

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