Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel.

ABSTRACT:

Background

The Philadelphia (Ph)-negative myeloproliferative neoplasms (MPNs), namely essential thrombocythaemia (ET), polycythaemia vera (PV) and primary myelofibrosis (PMF), are a group of chronic clonal haematopoietic disorders that have the propensity to advance into bone marrow failure or acute myeloid leukaemia; often resulting in fatality. Although driver mutations have been identified in these MPNs, subtype-specific markers of the disease have yet to be discovered. Next-generation sequencing (NGS) technology can potentially improve the clinical management of MPNs by allowing for the simultaneous screening of many disease-associated genes.

Methods

The performance of a custom, in-house designed 22-gene NGS panel was technically validated using reference standards acros

SUBMITTER: Tan J 

PROVIDER: S-EPMC8760696 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature