학술논문

Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1 -Negative Myeloproliferative Neoplasm.
Document Type
Article
Source
Cells (2073-4409). Jan2023, Vol. 12 Issue 1, p105. 12p.
Subject
*MOLECULAR biology
*MYELOPROLIFERATIVE neoplasms
*MOLECULAR diagnosis
*POLYCYTHEMIA vera
*RNA splicing
Language
ISSN
2073-4409
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. [ABSTRACT FROM AUTHOR]