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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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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. |
format | Online Article Text |
id | pubmed-10514516 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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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