Article
Simultaneous detection of mutations and copy number variation of NPM1 in the acute myeloid leukemia using multiplex ligation-dependent probe amplification.
Mutation research - 1 Apr 2016
Marcinkowska-Swojak Malgorzata, Handschuh Luiza, Wojciechowski Pawel, Goralski Michal, Tomaszewski Kamil, Kazmierczak Maciej, Lewandowski Krzysztof, Komarnicki Mieczyslaw, Blazewicz Jacek, Figlerowicz Marek, Kozlowski Piotr
Abstract excerpt
The NPM1 gene encodes nucleophosmin, a protein involved in multiple cell functions and carcinogenesis. Mutation of the NPM1 gene, causing delocalization of the protein, is the most frequent genetic lesion in acute myeloid leukemia (AML); it is considered a founder event in AML pathogenesis and serves as a favorable prognostic marker. Moreover, in solid tumors and some leukemia cell lines, overexpression of the...
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