Comparability of JAK2 p.V617F allele burden in peripheral blood and that in bone marrow in patients with suspected myeloproliferative neoplasms: a single-center prospective study.

PURPOSE: To detect JAK2 p.V617F and measure allele burden in peripheral blood (PB) and bone marrow (BM) aspirates in patients with suspected myeloproliferative neoplasms (MPNs). METHODS: Patients with suspected MPNs were prospectively enrolled between August 2017 and May 2019, and their PB and BM were collected during the same period. Quantitative fluorescence polymerase chain reaction (PCR) was used to detect the copy number of JAK2 wild type and the V617F mutant; the JAK2 V617F proportion was also calculated. The JAK2 p.V617F proportion in PB was compared to that in BM by Chi-square test. RESULTS: Among 54 patients with suspected MPNs, 43 of them were eligible for analysis. The JAK2 p.V617F in PB had the same sensitivity and specificity as BM (all P>0.05). The Chi-square test suggested that the JAK2 p.V617F allele burden of PB was comparable to that of BM (Spearman Correlation =0.986; P=0.000). CONCLUSION: PB could be used as an alternative to BM for JAK2 p.V617F measurement in patients with suspected MPNs.