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

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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	EL_1363880.pdf
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.
Related projects:	Národní program studia mutací a klonality leukemických buněk u pacientů s akutní myeloidní leukémií Nové přístupy ve výzkumu, diagnostice a terapii hematologických malignit III CZECRIN - Český národní uzel Evropské sítě infrastruktur klinického výzkumu CEITEC 2020