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Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm
BCR::ABL1-negative myeloproliferative neoplasms (MPNs) include three major subgroups—polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF)—which are characterized by aberrant hematopoietic proliferation with an increased risk of leukemic transformation. Besides the...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9818322/ https://www.ncbi.nlm.nih.gov/pubmed/36611899 http://dx.doi.org/10.3390/cells12010105 |
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author | Abbou, Norman Piazzola, Pauline Gabert, Jean Ernest, Vincent Arcani, Robin Couderc, Anne-Laure Tichadou, Antoine Roche, Pauline Farnault, Laure Colle, Julien Ouafik, L’houcine Morange, Pierre Costello, Régis Venton, Geoffroy |
author_facet | Abbou, Norman Piazzola, Pauline Gabert, Jean Ernest, Vincent Arcani, Robin Couderc, Anne-Laure Tichadou, Antoine Roche, Pauline Farnault, Laure Colle, Julien Ouafik, L’houcine Morange, Pierre Costello, Régis Venton, Geoffroy |
author_sort | Abbou, Norman |
collection | PubMed |
description | BCR::ABL1-negative myeloproliferative neoplasms (MPNs) include three major subgroups—polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF)—which are characterized by aberrant hematopoietic proliferation with an increased risk of leukemic transformation. Besides the driver mutations, which are JAK2, CALR, and MPL, more than twenty additional mutations have been identified through the use of next-generation sequencing (NGS), which can be involved with pathways that regulate epigenetic modifications, RNA splicing, or DNA repair. The aim of this short review is to highlight the impact of molecular biology on the diagnosis, prognosis, and therapeutic management of patients with PV, ET, and PMF. |
format | Online Article Text |
id | pubmed-9818322 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-98183222023-01-07 Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm Abbou, Norman Piazzola, Pauline Gabert, Jean Ernest, Vincent Arcani, Robin Couderc, Anne-Laure Tichadou, Antoine Roche, Pauline Farnault, Laure Colle, Julien Ouafik, L’houcine Morange, Pierre Costello, Régis Venton, Geoffroy Cells Review BCR::ABL1-negative myeloproliferative neoplasms (MPNs) include three major subgroups—polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF)—which are characterized by aberrant hematopoietic proliferation with an increased risk of leukemic transformation. Besides the driver mutations, which are JAK2, CALR, and MPL, more than twenty additional mutations have been identified through the use of next-generation sequencing (NGS), which can be involved with pathways that regulate epigenetic modifications, RNA splicing, or DNA repair. The aim of this short review is to highlight the impact of molecular biology on the diagnosis, prognosis, and therapeutic management of patients with PV, ET, and PMF. MDPI 2022-12-27 /pmc/articles/PMC9818322/ /pubmed/36611899 http://dx.doi.org/10.3390/cells12010105 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Abbou, Norman Piazzola, Pauline Gabert, Jean Ernest, Vincent Arcani, Robin Couderc, Anne-Laure Tichadou, Antoine Roche, Pauline Farnault, Laure Colle, Julien Ouafik, L’houcine Morange, Pierre Costello, Régis Venton, Geoffroy Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm |
title | Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm |
title_full | Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm |
title_fullStr | Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm |
title_full_unstemmed | Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm |
title_short | Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm |
title_sort | impact of molecular biology in diagnosis, prognosis, and therapeutic management of bcr::abl1-negative myeloproliferative neoplasm |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9818322/ https://www.ncbi.nlm.nih.gov/pubmed/36611899 http://dx.doi.org/10.3390/cells12010105 |
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