JAK2/STAT5 Pathway Mutation Frequencies in South African BCR/ABL Negative MPN Patients.

Background: Mutations in JAK2/STAT5 proliferation pathway genes are key in the diagnosis of myeloproliferative neoplasms (MPN), with JAK2V617F being found in 50-97% of MPN subtypes. Low JAK2V617F positivity at our facility suggested that our South African MPN population may have a different mutational landscape.

Objectives: We aimed to determine the JAK2/STAT5 mutation frequencies associated with our local MPN population, thus determining the relevance of these molecular tests in this group.