Novel complex mutation in NPM1 gene in patient with acute myeloid leukemia
2017
Somatic heterozygous mutations of the nucleophosmin gene (NPM1)
are the most frequent mutations in acute myeloid leukemia (AML)
patients. Mutations occur in approximately one-third of all
adult patients with AML and in one half of cytogenetically
normal AML patients (CN-AML). Mutations are mostly insertions
that cluster within exon 11 – at the level of transcript
(Ensembl transcript ref ENST00000296930, 1758 base pairs [bp])
it means within exon 12 – at the level of genomic DNA (Ensembl
gene ref ENSG00000181163, NCBI Gene ref 4869 related to the
Ensembl transcript ref ENST00000517671, 1338 bp). Frame shift
mutations of the NPM1 gene cause the elongation of
nucleophosmin phosphoprotein and its aberrant cytoplasmic
expression.
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