A team of researchers from Azerbaijan described the genetic profile of patients with primary\u00a0myelofibrosis\u00a0(MF) in their country. They compared the clinical and laboratory data of Janus kinase 2 (JAK2) V617F\u00a0mutation-positive and negative patients and said that prospective large studies are needed to understand how genetic mutations affect survival in these patients.<\/p>\n
The team led by Azer\u00a0Kerimov from the National Hematology and Transfusiology Center retrospectively analyzed 123 patients, median age 58.5, with primary MF who underwent genetic testing.\u00a0<\/p>\n
Of these, the majority (74%) were positive for the\u00a0JAK2 V617F\u00a0mutation, while 2.4% had a mutation in the\u00a0CALR\u00a0gene and 0.8% had a mutation in the\u00a0MPL\u00a0gene.\u00a0<\/p>\n
The median allele burden was 68.21%.\u00a0<\/p>\n
The researchers found no difference between patients who were positive or negative for the\u00a0JAK2\u00a0 mutation in terms of International Prognostic Scoring System groups.\u00a0<\/p>\n
However, they found that being positive for the\u00a0Jak2 V617F\u00a0mutation was significantly correlated with higher hemoglobin levels and white blood cell, absolute neutrophil, and eosinophil counts, and lower bone marrow blast counts.\u00a0<\/p>\n
Being positive for the\u00a0Jak2 V617F\u00a0mutation was also correlated with lower lactate dehydrogenase levels and total symptom scores, and higher platelet counts. However, this was not statistically significant.\u00a0<\/p>\n
There was also no difference in the rate of splenomegaly between patients with or without a\u00a0JAK2\u00a0mutation.\u00a0<\/p>\n
The researchers also reported that patients without the\u00a0Jak2 V617F\u00a0mutation seemed to have better overall survival, though this was also not statistically significant.\u00a0<\/p>\n
The median overall survival was 155 months in patients with a\u00a0JAK2\u00a0mutation and was not reached in patients without a\u00a0JAK2\u00a0mutation.<\/p>\n
\u201cHow\u00a0Jak2V617F\u00a0mutation affects the [overall survival] in [primary] MF remains controversial,\u201d the authors concluded.<\/p>\n
The study is published in the journal\u00a0Hematology, Transfusion and Cell Therapy.<\/p>\n