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Blood, 21 May 2009, Vol. 113, No. 21, pp. 5246-5249. Prepublished online as a Blood First Edition Paper on March 17, 2009; DOI 10.1182/blood-2008-11-191544.
Submitted November 25, 2008
Tisch Cancer Institute, Department of Medicine, Mount Sinai School of Medicine, New York, NY, United States * Corresponding author; email: ronald.hoffman{at}mssm.edu.
Patients with myeloproliferative disorders (MPD) are at a high risk of developing thrombotic events. Several investigators have hypothesized that endothelial cell (EC) abnormalities might contribute to this prothrombotic state. Budd-Chiari syndrome (BCS) and portal vein thrombosis have been reported to be associated with JAK2V617F positive hematopoiesis. We explored whether JAK2V617F was present in EC in the vessels of polycythemia vera (PV) patients with BCS using laser capture microdissection (LCM) followed by nested PCR or RT-PCR. The EC of the two BCS patients with PV were homozygous for the JAK2V617F and were shown to express transcripts characteristic of EC but not hematopoietic cells. EC of the other BCS patient with PV and 2 patients with hepatoportal sclerosis without PV contained exclusively wild type JAK2. The presence of JAK2V617F in both EC and hematopoietic cells belonging to BCS patients with PV indicate that EC in PV are involved by the malignant process and that in a subpopulation of the patients the disease might originate from a common cell of origin for hematopoietic and endothelial cells.
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