A team of researchers from Azerbaijan described the genetic profile of patients with primary myelofibrosis (MF) in their country. They compared the clinical and laboratory data of Janus kinase 2 (JAK2) V617F mutation-positive and negative patients and said that prospective large studies are needed to understand how genetic mutations affect survival in these patients.
The team led by Azer Kerimov from the National Hematology and Transfusiology Center retrospectively analyzed 123 patients, median age 58.5, with primary MF who underwent genetic testing.
Of these, the majority (74%) were positive for the JAK2 V617F mutation, while 2.4% had a mutation in the CALR gene and 0.8% had a mutation in the MPL gene.
The median allele burden was 68.21%.
The researchers found no difference between patients who were positive or negative for the JAK2 mutation in terms of International Prognostic Scoring System groups.
However, they found that being positive for the Jak2 V617F mutation was significantly correlated with higher hemoglobin levels and white blood cell, absolute neutrophil, and eosinophil counts, and lower bone marrow blast counts.
Being positive for the Jak2 V617F mutation was also correlated with lower lactate dehydrogenase levels and total symptom scores, and higher platelet counts. However, this was not statistically significant.
There was also no difference in the rate of splenomegaly between patients with or without a JAK2 mutation.
The researchers also reported that patients without the Jak2 V617F mutation seemed to have better overall survival, though this was also not statistically significant.
The median overall survival was 155 months in patients with a JAK2 mutation and was not reached in patients without a JAK2 mutation.
“How Jak2V617F mutation affects the [overall survival] in [primary] MF remains controversial,” the authors concluded.
The study is published in the journal Hematology, Transfusion and Cell Therapy.
This article originally appeared on Rare Disease Advisor