Study on the Clinical Significance of JAK2V617F Allele Burden in Philadelphia Chromosome-Negative Myeloproliferative Neoplasm.

BACKGROUND: It was discovered that the somatic mutation in JAK2 exon 14 (JAK2V617F) totally modified the understanding and diagnosis of Philadelphia-Negative myeloproliferative neoplasm (Ph-MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Real-time quantitative PCR is the most widely used method for JAK2V617F detection in clinical laboratory. In this study, we aimed to evaluate the clinical significance of JAK2V617F allele burden in Ph-MPNs detected by real-time quantitative PCR.

METHODS: A total of 208 bone marrow samples were collected from patients suspected to have Ph-MPNs. Real-time quantitative PCR was performed on each sample to obtain the JAK2V617F allele burden. Clinical and laboratory data from these participants were also recorded for their first visit.

RESULTS: Out of 208 participants, 118 patients were confirmed with Ph-MPNs. JAK2V617F mutations were found in 59 patients in the PV group (86.8%), 31 patients in the ET group (70.5%). PV, PMF, and ET showed a significant difference in the distribution of JAK2V617F allele burden. In JAK2V617F positive patients, JAK2V617F allele burden was closely related with WBC counts, platelet counts, and hemoglobin concentration.

CONCLUSIONS: JAK2V617F allele burden is a useful marker in the diagnosis, discrimination, and evaluation of PhMPNs.