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 subgroupspolycythemia 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 d...

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Published inCells (Basel, Switzerland) Vol. 12
Main Authors 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
Format Journal Article
LanguageEnglish
Published MDPI 27.12.2022
Subjects
Human health and pathology
Life Sciences
myeloproliferative neoplasms
driver mutations
additional somatic mutations
next-generation sequencing
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Summary:BCR::ABL1-negative myeloproliferative neoplasms (MPNs) include three major subgroupspolycythemia 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.
ISSN:2073-4409
2073-4409
DOI:10.3390/cells12010105