Novel NPM1 exon 5 mutations and gene fusions leading to aberrant cytoplasmic nucleophosmin in AML

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 imm...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2021
Materias:
Myeloid Neoplasia
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9037756/
https://www.ncbi.nlm.nih.gov/pubmed/34343258
http://dx.doi.org/10.1182/blood.2021012732

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