Study of the JAK2V617F Mutation in Blood and Endothelial Cells of Patients with Myeloproliferative Neoplasms PV and ET to Understand Risk of Blood Clots

What this Trial Is About

Myeloproliferative Neoplasms MPN are blood cancers linked to a higher risk of blood clots. This research focuses on understanding how the presence of a genetic mutation called JAK2V617F in different blood cell types and endothelial cells relates to the risk of developing these clots. Researchers aim to identify specific patterns of this mutation in various cell populations that might help predict which patients are at higher risk for thrombosis. The study involves 120 patients diagnosed with either Polycythemia Vera PV or Essential Thrombocythemia ET. Blood samples will be collected to isolate platelets, red blood cells, granulocytes, and endothelial cells. Using digital PCR technology, the level of the JAK2V617F mutation will be measured in these cells. Patients with or without a history of thrombosis and different types of thrombosis will be compared to identify any associations with the mutation profiles. Participants will be involved at the time of diagnosis or within one year of diagnosis before starting cytoreductive treatment. Researchers will evaluate the mutation level in different blood cells and endothelial cells, assess the type of MPN, and measure the risk score for thrombosis. The main outcome is the history of thrombosis at diagnosis. This observational study does not involve treatment but collects blood samples and clinical data to better understand thrombosis risks in MPN patients.

Determination of the Clonality Profile in Myeloproliferative Neoplasms and Association With the Thrombotic Complications (CLOJAK)