Immunoproteasome Genes Are Modulated in CD34 JAK2 Mutated Cells from Primary Myelofibrosis Patients.

Primary myelofibrosis (PMF) is a rare myeloproliferative neoplasm characterized by stem-cell-derived clonal over-proliferation of mature myeloid lineages, bone marrow fibrosis, osteosclerosis, defective erythropoiesis, and pro-inflammatory cytokine over-expression. The aim of the present study was to highlight possible differences in the transcriptome among CD34 cells from peripheral blood (PB) of PMF patients. Therefore, we merged two microarray datasets of healthy control subjects and PMF (34 JAK2 MUTATED and 28 JAK2 wild-type). The GO analysis of upregulated genes revealed enrichment for JAK2/STAT1 pathway gene set in PB CD34 cells of PMF patients with and without the comparing to the healthy control subjects, and in particular a significant upregulation of immunoproteasome (IP)-belonging genes as , and A more detailed investigation of the IFN-gamma (IFNG) pathway also revealed that and were significantly upregulated in PB CD34 cells of PMF patients carrying the mutation for JAK2 compared to JAK2 wild-type PMF patients. Finally, we showed an upregulation of HLA-class I genes in PB CD34 cells from PMF JAK2 mutated patients compared to JAK2 wild-type and healthy controls. In conclusion, our results demonstrate that IPs and IFNG pathways could be involved in PMF disease and in particular in patients carrying the .