JAK2 V617F mutation and PRV-1 overexpression: relevance in the diagnosis of polycythaemia vera and essential thrombocythaemia.

In the diagnosis of polycythaemia vera and essential thrombocythaemia, two molecular markers were described in the last decade: the overexpression of the PRV-1 gene and the V617F mutation in the JAK2 gene. In this study we assess their usefulness by comparing our test results with the available clinical data. We show that in the diagnosis of polycythaemia vera the JAK2 mutation screening is crucial, while testing for the PRV-1 overexpression is redundant. On the contrary, in the diagnosis of essential thrombocythaemia (ET), both JAK2 and PRV-1 show their usefulness.