Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm

Autor:	Norman Abbou, Pauline Piazzola, Jean Gabert, Vincent Ernest, Robin Arcani, Anne-Laure Couderc, Antoine Tichadou, Pauline Roche, Laure Farnault, Julien Colle, L’houcine Ouafik, Pierre Morange, Régis Costello, Geoffroy Venton
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	myeloproliferative neoplasms next-generation sequencing driver mutations additional somatic mutations Cytology QH573-671
Zdroj:	Cells, Vol 12, Iss 1, p 105 (2022)
Druh dokumentu:	article
ISSN:	2073-4409
DOI:	10.3390/cells12010105
Popis:	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.
Databáze:	Directory of Open Access Journals
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