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

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

keywords

• Myeloproliferative neoplasms
• Next-generation sequencing
• Driver mutations
• Additional somatic mutations

abstract

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.

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