<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Acute myeloid leukemia (AML) is a clonal disorder that results from errors in proliferation and differentiation of bone marrow stem cells from myeloid lineage. According to the Gilliland “two-hit” model, genes of both groups related to proliferation (e.g., <italic>FLT3</italic>) and differentiation (e.g., <italic>CEBPA</italic>) must be mutated for full development of AML. The genetic background of AML is very complicated and varied, from single nucleotide mutations or changes in gene expression to cytogenetic aberrations. The DNA sequencing results enable identification of important gene alterations that occur first and may lead the whole leukemogenesis (driver mutations). Some of them have prognostic significance – that is, they are related to the overall survival (OS), complete remission rate, and event-free survival (EFS). The most common molecular changes in AML are mutations in <italic>NPM1</italic>, <italic>CEBPA</italic>, <italic>FLT3,</italic> and <italic>DNMT3A</italic>. Alterations in <italic>NPM1</italic> gene are associated with a good prognosis but simultaneous mutation in <italic>FLT3</italic> may change this prognosis. <italic>DNMT3A</italic> mutations are very often correlated with <italic>NPM1</italic> mutations and are associated with short OS.</p>
</abstract>

Acute myeloid leukemia (AML) is a clonal disorder that results from errors in proliferation and differentiation of bone marrow stem cells from myeloid lineage. According to the Gilliland “two-hit” model, genes of both groups related to proliferation (e.g., FLT3) and differentiation (e.g., CEBPA) must be mutated for full development of AML. The genetic background of AML is very complicated and varied, from single nucleotide mutations or changes in gene expression to cytogenetic aberrations. The DNA sequencing results enable identification of important gene alterations that occur first and may lead the whole leukemogenesis (driver mutations). Some of them have prognostic significance – that is, they are related to the overall survival (OS), complete remission rate, and event-free survival (EFS). The most common molecular changes in AML are mutations in NPM1, CEBPA, FLT3, and DNMT3A. Alterations in NPM1 gene are associated with a good prognosis but simultaneous mutation in FLT3 may change this prognosis. DNMT3A mutations are very often correlated with NPM1 mutations and are associated with short OS.

Genetic basis of acute myeloid leukemia (AML): The most common molecular changes in patients with normal karyotype

Department of Clinical Genetics, Faculty of Medicine

Postępy Higieny i Medycyny Doświadczalnej

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Acute myeloid leukemia (AML) is a clonal disorder that results from errors in proliferation and differentiation of bone marrow stem cells from myeloid lineage....

Genetic basis of acute myeloid leukemia (AML): The most common molecular changes in patients with normal karyotype

Article Category: Review

Online veröffentlicht: 09. Aug. 2022

Seitenbereich: 339 - 344

Eingereicht: 04. Nov. 2021

Akzeptiert: 28. März 2022

DOI: https://doi.org/10.2478/ahem-2022-0034

Schlüsselwörter
acute myeloid leukemia, prognostic factor, driver mutation,

© 2022 Karolina Matiakowska-Bryk et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Genetic basis of acute myeloid leukemia (AML): The most common molecular changes in patients with normal karyotype

Article Category: Review

Online veröffentlicht: 09. Aug. 2022

Seitenbereich: 339 - 344

Eingereicht: 04. Nov. 2021

Akzeptiert: 28. März 2022

DOI: https://doi.org/10.2478/ahem-2022-0034

Schlüsselwörteracute myeloid leukemia, prognostic factor, driver mutation,

© 2022 Karolina Matiakowska-Bryk et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Schlüsselwörter
acute myeloid leukemia, prognostic factor, driver mutation,