Prospective study reveals genomic shifts associated with disease transformation in polycythemia vera, indicating implications for treatment strategies.
Key Points
This research investigates genomic changes that occur during disease transformation in polycythemia vera patients.
Longitudinal genomic sequencing was performed on patients transforming to myelofibrosis and leukemias.
Biospecimens collected were analyzed for genetic variants before and after transformation.
The study utilized whole exome sequencing to identify mutations and variant allele frequencies.
41 patients with myelofibrosis transformation analyzed, all were positive for JAK2V617F at enrollment.
85% displayed copy neutral loss of heterozygosity at chr9p encompassing the JAK2 locus.