AUTHOR=Mroczkowska-Bękarciak Aleksandra , Wróbel Tomasz 

TITLE=BCR::ABL1-negative myeloproliferative neoplasms in the era of next-generation sequencing

JOURNAL=Frontiers in Genetics

VOLUME=Volume 14 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1241912

DOI=10.3389/fgene.2023.1241912

ISSN=1664-8021

ABSTRACT=<p>The classical <italic>BCR::ABL1</italic>-negative myeloproliferative neoplasms such as polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF) are clonal diseases with the presence of characteristic “driver mutations” in one of the genes: JAK2, CALR, or MPL. The search for mutations in these three genes is required for the diagnosis of MPNs. Nevertheless, the progress that has been made in the field of molecular genetics has opened a new era in medicine. The search for additional mutations in MPNs is helpful in assessing the risk stratification, disease progression, transformation to acute myeloid leukemia (AML), or choosing the right treatment. In some cases, advanced technologies are needed to find a clonal marker of the disease and establish a diagnosis. This review focuses on how the use of new technologies like next-generation sequencing (NGS) helps in the diagnosis of <italic>BCR::ABL1</italic>-negative myeloproliferative neoplasms.</p>