Can you have PV with a negative JAK2?
In recent times, mutations of JAK2 exon 12 have been described in JAK2V617F negative patients with PV. [10] Most patients with PV, carrying an exon 12 mutation, had isolated erythrocytosis at clinical onset, unlike patients with JAK2 positive PV, who had elevations in leucocytes and/ or platelet count.
Can you still have polycythemia vera without JAK2 mutation?
Even though JAK2 mutations are found in the vast majority of PV patients, “true” PV has been described in patients lacking mutations in the exon 12 or 14 of JAK2, raising the question of other mutations causing this phenotype.
What does negative JAK2 test mean?
One reason it might be negative is that the proportion of your cells that have the JAK2 V617F mutation may be low. Currently, the test is not nationally standardized, so the sensitivity of the test may vary somewhat from laboratory to laboratory.
Can polycythemia vera be misdiagnosed?
If bone marrow histology isn’t thoroughly integrated into the workup, there’s a risk that patients with early stage PV may be misdiagnosed with essential thrombocythemia (ET) or myeloproliferative neoplasm unclassifiable (MPN-U) based on the 2008 WHO thresholds.
What is JAK2 negative erythrocytosis?
Abstract. JAK2 unmutated or non-polycythemia vera (PV) erythrocytosis encompasses both hereditary and acquired conditions. A systematic diagnostic approach begins with documentation of historical hematocrit (Hct)/hemoglobin (Hgb) measurements and classification of the process as life-long/unknown duration or acquired.
What are the symptoms of polycythemia vera?
What are the symptoms of polycythemia vera?
- Lack of energy (fatigue) or weakness.
- Headache.
- Dizziness.
- Shortness of breath and trouble breathing while lying down.
- Vision problems, such as double vision, blurred vision, and blind spots.
- Inability to concentrate.
- Night sweats.
- Face and becomes red and warm (flushed)
How do you rule out polycythemia vera?
To diagnose PV, your doctor will perform a test called a complete blood count (CBC) to see if your number of red blood cells is higher than normal. Your doctor may also test your blood to look for amounts of a hormone called erythropoietin. Lower-than-normal levels of this hormone can be a sign of PV.
What is the difference between polycythemia and erythrocytosis?
Erythrocytosis is sometimes referred to as polycythemia, but the conditions are slightly different: Erythrocytosis is an increase in RBCs relative to the volume of blood. Polycythemiais an increase in both RBC concentration and hemoglobin, the protein in red blood cells that carries oxygen to the body’s tissues.