The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.

ABSTRACT:

Introduction

Myeloproliferative neoplasm (MPN) is a heterogenous group of hematological malignancies including polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). JAK2V617F is the most frequent driver mutation in all three entities, but in PMF and ET mutations in CALR and MPL are also frequent. Mutations seen in additional genes are also often the same regardless of subtype of MPN. The aim of this study was to analyze a population based MPN cohort for genetic variants with prognostic value that can guide clinical decisions.

Methods

MPN patients from Western Sweden diagnosed between 2008-2013 (n=248) were screened for mutations in 54 genes associated with myeloid malignancy.

Results

Mutations in the genes SRSF

SUBMITTER: Pettersson H 

PROVIDER: S-EPMC10451068 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature