Searching the origin of mutated endothelial cells

Myeloproliferative neoplasms (MPN) are hematological malignancies associated with thrombotic complications, especially in the presence of the JAK2V617F mutation. In particular, these diseases are linked to the development of thrombosis with atypical locations such as splanchnic veins. In this context, it has been shown that patients can carry this mutation in their endothelial cells in contrast with the classical view of an hematological malignancy triggered by mutated hematopoietic cells. We recently demonstrated that JAK2V617F mutated endothelial cells presented with a prothrombotic phenotype (Guy et al, Haematologica 2019). While the origin of these mutated endothelial cells remains unknown, it represents an opened new concept both in vascular biology and hematology, suggesting a direct connection between acquired hematological malignancies and vascular diseases.

Our project aims to characterize JAK2V617F mutated endothelial cells and to determine their origin.