JAK2V617F Mutation Allele Burden (MAB) and Its Correlation with Hematologic Characteristics in Myeloproliferative Neoplasms

Detection of the JAK2V617F somatic mutation has become standard care for diagnosing myeloproliferative neoplasms (MPN), including polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). However, quantitation of V617F mutation allele burden (MAB) is not routinely evaluated, and the V617F MAB data are less frequently reported in the United States MPN population. We studied the correlation between V617F MAB and hematologic characteristics in our South Texas MPN patient population using a clinically validated allelic discrimination quantitative PCR (AD-qPCR) assay.