JAK2V617F variant allele frequency, non-driver mutations, single-nucleotide variants and polycythemia vera outcome.

ABSTRACT:

Introduction

Despite comparatively favourable prognosis in polycythemia vera (PV) patients (pts), the overall survival is shorter compared to the age-matched general population. The aim of the study was to evaluate the impact of chosen laboratory and genetic factors on the individual disease outcome, i.e. risk of thrombosis, myelofibrosis/blastic transformation and death.

Materials and methods

The study group consisted of 151 pts and 57 healthy donors (HD).

Results

JAK2V617F mutation was found in 96.7% (146/151) of the studied pts. JAK2 exon 12 mutations were identified in 2 individuals. The coexistence of JAK2V617F and JAK2 exon 12 mutation was confirmed in 2 other pts. In one case, neither JAK2V617F nor JAK2 exon 12 mutation was found. The presence of ten different

SUBMITTER: Kandula Z 

PROVIDER: S-EPMC10349754 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature