NPM1 gene mutations in children with myelodysplastic syndromes

Biljana Jekic; Vera Bunjevacki; Valerija Dobricic; Ivana Novakovic; Jelena Milasin; Branka Popovic; Tatjana Damnjanovic; Nela Maksimovic; V. Perovic; Ljiljana Lukovic

doi:10.2298/ABS1103649J

NPM1 gene mutations in children with myelodysplastic syndromes

Biljana Jekic^*, Vera Bunjevacki, Valerija Dobricic, Ivana Novakovic, Jelena Milasin, Branka Popovic, Tatjana Damnjanovic, Nela Maksimovic, V. Perovic, Ljiljana Lukovic

^*Corresponding author for this work

Institute of Neurogenetics

2 Citations (Scopus)

Abstract

Myelodysplastic syndromes (MDS) are rare in children and only a few studies have analyzed their molecular mechanisms. The NPM1 gene encodes for nucleophosmin (NPM) which regulates hematopoiesis. Mutations in exon 12 of the NPM1 cause the nucleophosmin cytoplasmic dislocation and disrupt its functions. We have analyzed mutations of the NPM1 gene in archival bone marrow samples from 17 children with MDS and detected, in one patient, transition C to T in codon 293. To the best of our knowledge, this is the first analysis of NPM1 mutations in childhood MDS and the very first missense mutation of the NPM1 gene reported so far.

Original language	English
Journal	Archives of Biological Sciences
Volume	63
Issue number	3
Pages (from-to)	649-653
Number of pages	5
ISSN	0354-4664
DOIs	https://doi.org/10.2298/ABS1103649J
Publication status	Published - 2011

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title = "NPM1 gene mutations in children with myelodysplastic syndromes",

abstract = "Myelodysplastic syndromes (MDS) are rare in children and only a few studies have analyzed their molecular mechanisms. The NPM1 gene encodes for nucleophosmin (NPM) which regulates hematopoiesis. Mutations in exon 12 of the NPM1 cause the nucleophosmin cytoplasmic dislocation and disrupt its functions. We have analyzed mutations of the NPM1 gene in archival bone marrow samples from 17 children with MDS and detected, in one patient, transition C to T in codon 293. To the best of our knowledge, this is the first analysis of NPM1 mutations in childhood MDS and the very first missense mutation of the NPM1 gene reported so far.",

author = "Biljana Jekic and Vera Bunjevacki and Valerija Dobricic and Ivana Novakovic and Jelena Milasin and Branka Popovic and Tatjana Damnjanovic and Nela Maksimovic and V. Perovic and Ljiljana Lukovic",

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doi = "10.2298/ABS1103649J",

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pages = "649--653",

journal = "Archives of Biological Sciences",

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T1 - NPM1 gene mutations in children with myelodysplastic syndromes

AU - Jekic, Biljana

AU - Bunjevacki, Vera

AU - Dobricic, Valerija

AU - Novakovic, Ivana

AU - Milasin, Jelena

AU - Popovic, Branka

AU - Damnjanovic, Tatjana

AU - Maksimovic, Nela

AU - Perovic, V.

AU - Lukovic, Ljiljana

PY - 2011

Y1 - 2011

N2 - Myelodysplastic syndromes (MDS) are rare in children and only a few studies have analyzed their molecular mechanisms. The NPM1 gene encodes for nucleophosmin (NPM) which regulates hematopoiesis. Mutations in exon 12 of the NPM1 cause the nucleophosmin cytoplasmic dislocation and disrupt its functions. We have analyzed mutations of the NPM1 gene in archival bone marrow samples from 17 children with MDS and detected, in one patient, transition C to T in codon 293. To the best of our knowledge, this is the first analysis of NPM1 mutations in childhood MDS and the very first missense mutation of the NPM1 gene reported so far.

AB - Myelodysplastic syndromes (MDS) are rare in children and only a few studies have analyzed their molecular mechanisms. The NPM1 gene encodes for nucleophosmin (NPM) which regulates hematopoiesis. Mutations in exon 12 of the NPM1 cause the nucleophosmin cytoplasmic dislocation and disrupt its functions. We have analyzed mutations of the NPM1 gene in archival bone marrow samples from 17 children with MDS and detected, in one patient, transition C to T in codon 293. To the best of our knowledge, this is the first analysis of NPM1 mutations in childhood MDS and the very first missense mutation of the NPM1 gene reported so far.

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U2 - 10.2298/ABS1103649J

DO - 10.2298/ABS1103649J

M3 - Journal articles

AN - SCOPUS:79961178698

SN - 0354-4664

VL - 63

SP - 649

EP - 653

JO - Archives of Biological Sciences

JF - Archives of Biological Sciences

IS - 3

ER -

NPM1 gene mutations in children with myelodysplastic syndromes

Abstract

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