Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation

Blood. 2013 Jan 10;121(2):360-8. doi: 10.1182/blood-2012-01-404889. Epub 2012 Nov 5.

Abstract

Increased microvessel density contributes to abnormal BM and spleen microenvironment in myelofibrosis (MF). Taking advantage of the JAK2V617F mutation as a marker of malignancy, in the present study, we investigated whether splenic endothelial cells (ECs) obtained from capillaries by laser microdissection or from fresh spleen tissue by cell culture or cell sorting harbored such mutation in patients bearing the mutation in their granulocytes and undergoing splenectomy for therapeutical reasons. To extend the analysis to the ECs of large vessels, endothelial tissue from the splenic vein was also studied. We found JAK2V617F(+) ECs in 12 of 18 patients also bearing the mutation in their granulocytes. In 3 patients, the mutation was found in at least 2 different EC samples obtained by laser microdissection, cell culture, or cell sorting. The mutation was detected in the splenic vein ECs of 1 of 6 patients investigated. In conclusion, we provide evidence that some ECs from the spleen and splenic veins of patients with MF bear the JAK2V617F mutation. We suggest that splenic ECs are involved in the process of malignant transformation in MF.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Cell Separation
  • Comparative Genomic Hybridization
  • Endothelial Cells / pathology*
  • Female
  • Flow Cytometry
  • Humans
  • In Situ Hybridization, Fluorescence
  • Janus Kinase 2 / genetics*
  • Laser Capture Microdissection
  • Male
  • Middle Aged
  • Mutation
  • Primary Myelofibrosis / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Spleen / pathology*

Substances

  • JAK2 protein, human
  • Janus Kinase 2