Article
Novel NPM1 exon 5 mutations and gene fusions leading to aberrant cytoplasmic nucleophosmin in AML.
Blood - 23 Dec 2021
Martelli Maria Paola, Rossi Roberta, Venanzi Alessandra, Meggendorfer Manja, Perriello Vincenzo Maria, Martino Giovanni, Spinelli Orietta, Ciurnelli Raffaella, Varasano Emanuela, Brunetti Lorenzo, Ascani Stefano, Quadalti Corinne, Cardinali Valeria, Mezzasoma Federica, Gionfriddo Ilaria, Milano Francesca, Pacini Roberta, Tabarrini Alessia, Bigerna Barbara, Albano Francesco, Specchia Giorgina, Vetro Calogero, Di Raimondo Francesco, Annibali Ombretta, Avvisati Giuseppe, Rambaldi Alessandro, Falzetti Franca, Tiacci Enrico, Sportoletti Paolo, Haferlach Torsten, Haferlach Claudia, Falini Brunangelo
Abstract excerpt
Nucleophosmin (NPM1) mutations in acute myeloid leukemia (AML) affect exon 12, but also sporadically affect exons 9 and 11, causing changes at the protein C-terminal end (tryptophan loss, nuclear export signal [NES] motif creation) that lead to aberrant cytoplasmic NPM1 (NPM1c+), detectable by immunohistochemistry. Combining immunohistochemistry and molecular analyses in 929 patients with AML, we found non-exon...
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