Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of IBCR::ABL1/I-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...

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Published in:Cells (Basel, Switzerland) Switzerland), 2022-12, Vol.12 (1)
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: Article
Language:English
Subjects:
Cancer
Care and treatment
Diagnosis
Genetic aspects
Myeloproliferative disorders
Oncology, Experimental
Prognosis
Tumors
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Summary: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.
ISSN:2073-4409
2073-4409
DOI:10.3390/cells12010105