Publication details

Novel complex mutation in NPM1 gene in patient with acute myeloid leukemia

Authors

JEŽÍŠKOVÁ Ivana SEMERAD Lukas DVOŘÁKOVÁ Dana JANEČKOVÁ Veronika ČULEN Martin KUNETKOVÁ Tamara MAYER Jiří RÁČIL Zdeněk

Year of publication 2017
Type Article in Periodical
Magazine / Source Leukemia & Lymphoma
MU Faculty or unit

Faculty of Medicine

Citation
Web Full Text
Doi http://dx.doi.org/10.1080/10428194.2016.1213832
Field Oncology and hematology
Keywords NUCLEOPHOSMIN; AML
Attached files
Description 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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