Sequencing of Myeloproliferative Neoplasm (MPN) Samples

Myeloproliferative neoplasms (MPNs) (i.e. essential thrombocythaemia (ET), polycythaemia vera (PV), and primary myelofibrosis (PMF)) encompass a heterogenous group of chronic, clonal haematopoietic disorders with various leukaemic potential, of which clinical management require an integrated, multimodal approach involving the evaluation of various criteria such as tissue morphology and genetics.Although driver mutations in MPN have been identified and various genes have been found to have potential prognostic value, none are MPN subtype-specific. The clinical management of MPN is further challenged by significant phenotypic and genotypic overlap that exists not between MPN subtypes as well as other myeloid disorders. Given its ability to simultaneously screen a large number of disease-associated genes, next-generation sequencing (NGS) technology has the potential to improve the clinical management of MPNs.This is the first multicentre study of its kind in Malaysia which involves the screening of clinical MPN samples using a custom, in-house designed 22-gene targeted NGS panel. The custom NGS panel had robust performance and was able to detect known MPN-associated variants as well as putative novel variants with potential biological significance, which supports its utility as a tool for better-informed clinical management decisions for MPNs.