Contribution of molecular characterization to the diagnosis of MPN in patients with low JAK2^V617F variant allelic fraction in a real-world cohort.

ABSTRACT: Since 2008, the JAK2^V617F mutation has been key for diagnosing myeloproliferative neoplasms (MPN) according to the World Health Organization criteria. However, the clinical and biological significance of low JAK2^V617F variant allelic fraction (VAF) remains poorly understood. To address this, we performed a comprehensive molecular characterization of a monocentric real-world retrospective cohort of MPN patients with low JAK2^V617F VAF, diagnosed between 2007 and 2019. Our analysis revealed that 46.3% of these cases had additional driver mutations into JAK2, CALR, and MPL genes associated with very low JAK2^V617F VAF (median: 0.09%). Furthermore, next-generation sequencing of cases without these driver mutations showed that 67.7% harbored other mutat

SUBMITTER: Lebecque B 

PROVIDER: S-EPMC12031943 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature