Ontology highlight
ABSTRACT:
SUBMITTER: Roti G
PROVIDER: S-EPMC1867590 | biostudies-literature | 2006 May
REPOSITORIES: biostudies-literature
Roti Giovanni G Rosati Roberto R Bonasso Rossella R Gorello Paolo P Diverio Daniela D Martelli Massimo Fabrizio MF Falini Brunangelo B Mecucci Cristina C
The Journal of molecular diagnostics : JMD 20060501 2
NPM1 gene mutations are the most frequent genetic lesion in the 60% of adult acute myeloid leukemias (AMLs) with normal karyotype and no evidence of typical fusion genes (BCR/ABL1, PML/RARA, AML1/ETO, CBFB/MYH11, DEK/CAN). Using direct sequencing we previously identified six different heterozygous mutants within exon 12 encoding the nucleophosmin C-terminus. Because of these mutations the shuttling protein nucleophosmin is aberrantly delocalized in the cytoplasm of leukemic cells (NPMc+). Here, ...[more]