Quantification of PRV-1 mRNA distinguishes polycythemia vera from secondary erythrocytosis.

To date, the diagnosis of polycythemia vera (PV) relies on clinical criteria. We have recently described the overexpression of a hematopoietic receptor, polycythemia rubra vera-1 (PRV-1), in patients with PV. Here, we report a quantitative reverse transcriptase-polymerase chain reaction (RT-PCR) assay for the measurement of PRV-1 mRNA levels. We have determined PRV-1 expression in 71 patients with PV, 11 patients with secondary erythrocytosis (SE), as well as in 80 healthy controls. PV patients express significantly higher amounts of PRV-1 than healthy controls or patients with SE (P <.0001). Because there is no overlap between the PRV-1 expression in PV patients versus healthy controls or SE patients, the assay has a very high sensitivity and specificity for the diagnosis of PV in our population. In patients with erythrocytosis, the quantitative RT-PCR assay described here therefore provides a rapid, highly specific and sensitive tool for the diagnosis of PV.