An interesting article from Italian haematologists and researchers was recently published, titled Clinical and Molecular Challenges in Diagnosing Myeloproliferative Neoplasms with Low JAK2V617F Allelic Burden: A Single-Center Perspective and Literature Overview
Their study “aimed to evaluate the clinical relevance, thrombotic risk, and hematologic evolution associated with low JAK2 V617F allele burden.” …. “Patients with a variant allele frequency (VAF) <2% who did not meet WHO or 2022 International Consensus Classification diagnostic criteria for MPN at baseline were included. Clinical characteristics, laboratory parameters, molecular findings, thrombotic events, and longitudinal outcomes were analyzed.”
“Conclusions: Low-burden JAK2 V617F mutations represent clinically relevant clonal events associated with thrombotic risk and potential disease evolution. These findings support the need for structured clinical and molecular follow-up even in the absence of initial diagnostic criteria.”
