What is best practice in the accurate diagnosis of PV?

FAQ published on December 10, 2020
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Raajit K. Rampal, MD, PhD
Assistant Member
Clinical Director, Leukemia Service
Memorial Sloan Kettering Cancer Center
New York, New York
What is best practice in the accurate diagnosis of PV?

Hi, I’m Dr. Raajit Rampal and I’m frequently asked, what is the best practice in the accurate diagnosis of polycythemia vera? Establishing the accurate diagnosis of polycythemia vera relies on a couple of major things. Number one, the molecular assessment of the patient who we think may have polycythemia vera. A patient may come to our attention and because they have an elevated hematocrit or hemoglobin, and we know that 95% to 99% of patients are going to be positive for the JAK2 mutation, either the canonical JAK2 V617F mutation or the exon 12 mutation, so assessing that gives us at least a hint that this is likely to be polycythemia vera. It is important to adhere to the 2016 WHO criteria in which the presence of the mutation is but one criteria. A bone marrow examination is recommended and suggested to further help to establish the diagnosis of polycythemia vera. Now, depending on the patient’s hemoglobin and hematocrit, that may be something that can be avoided if they meet a certain threshold. There are benefits to doing the bone marrow examination, namely the assessment of fibrosis at baseline as we do know that the presence of fibrosis at baseline in the patient with polycythemia vera does portend an increased risk of disease progression to an overt fibrotic state. The other piece of data that’s important is to get the erythropoietin level because if this is subnormal, this meets one of the minor criteria for the diagnosis of polycythemia vera. Thank you for viewing this activity.

Last modified: December 8, 2020