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BCR::ABL1-negative myeloproliferative neoplasms in the era of next-generation sequencing

The classical BCR::ABL1-negative myeloproliferative neoplasms such as polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF) are clonal diseases with the presence of characteristic “driver mutations” in one of the genes: JAK2, CALR, or MPL. The search for mutations in these t...

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Autores principales: Mroczkowska-Bękarciak, Aleksandra, Wróbel, Tomasz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10514516/
https://www.ncbi.nlm.nih.gov/pubmed/37745842
http://dx.doi.org/10.3389/fgene.2023.1241912
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author Mroczkowska-Bękarciak, Aleksandra
Wróbel, Tomasz
author_facet Mroczkowska-Bękarciak, Aleksandra
Wróbel, Tomasz
author_sort Mroczkowska-Bękarciak, Aleksandra
collection PubMed
description The classical BCR::ABL1-negative myeloproliferative neoplasms such as polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF) are clonal diseases with the presence of characteristic “driver mutations” in one of the genes: JAK2, CALR, or MPL. The search for mutations in these three genes is required for the diagnosis of MPNs. Nevertheless, the progress that has been made in the field of molecular genetics has opened a new era in medicine. The search for additional mutations in MPNs is helpful in assessing the risk stratification, disease progression, transformation to acute myeloid leukemia (AML), or choosing the right treatment. In some cases, advanced technologies are needed to find a clonal marker of the disease and establish a diagnosis. This review focuses on how the use of new technologies like next-generation sequencing (NGS) helps in the diagnosis of BCR::ABL1-negative myeloproliferative neoplasms.
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spelling pubmed-105145162023-09-23 BCR::ABL1-negative myeloproliferative neoplasms in the era of next-generation sequencing Mroczkowska-Bękarciak, Aleksandra Wróbel, Tomasz Front Genet Genetics The classical BCR::ABL1-negative myeloproliferative neoplasms such as polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF) are clonal diseases with the presence of characteristic “driver mutations” in one of the genes: JAK2, CALR, or MPL. The search for mutations in these three genes is required for the diagnosis of MPNs. Nevertheless, the progress that has been made in the field of molecular genetics has opened a new era in medicine. The search for additional mutations in MPNs is helpful in assessing the risk stratification, disease progression, transformation to acute myeloid leukemia (AML), or choosing the right treatment. In some cases, advanced technologies are needed to find a clonal marker of the disease and establish a diagnosis. This review focuses on how the use of new technologies like next-generation sequencing (NGS) helps in the diagnosis of BCR::ABL1-negative myeloproliferative neoplasms. Frontiers Media S.A. 2023-09-08 /pmc/articles/PMC10514516/ /pubmed/37745842 http://dx.doi.org/10.3389/fgene.2023.1241912 Text en Copyright © 2023 Mroczkowska-Bękarciak and Wróbel. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Mroczkowska-Bękarciak, Aleksandra
Wróbel, Tomasz
BCR::ABL1-negative myeloproliferative neoplasms in the era of next-generation sequencing
title BCR::ABL1-negative myeloproliferative neoplasms in the era of next-generation sequencing
title_full BCR::ABL1-negative myeloproliferative neoplasms in the era of next-generation sequencing
title_fullStr BCR::ABL1-negative myeloproliferative neoplasms in the era of next-generation sequencing
title_full_unstemmed BCR::ABL1-negative myeloproliferative neoplasms in the era of next-generation sequencing
title_short BCR::ABL1-negative myeloproliferative neoplasms in the era of next-generation sequencing
title_sort bcr::abl1-negative myeloproliferative neoplasms in the era of next-generation sequencing
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10514516/
https://www.ncbi.nlm.nih.gov/pubmed/37745842
http://dx.doi.org/10.3389/fgene.2023.1241912
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