GSE122685
Tet2 is required for Socs activation in immune response cells [RNA-seq_human]
Purpose: Systemic mastocytosis is a rare and chronic disease with phenotypes ranging from indolent to severe. Prognosis for this disease is variable and very few biomarkers to predict disease evolution or outcome are currently known. We have performed comprehensive screening in our large cohort of systemic mastocytosis patients for mutations previously found in other myeloid diseases and that could serve as prognostic indicators. KIT, SRSF2-P95 and TET2 mutations were by far the most frequent, detected in 81, 24 and 21 percent of patients, respectively. To understand the molecular mechanisms that regulate the functional cooperation that we and others have described for oncogenic KitD816V and Tet2 loss-of-function mutations in aggressive mastocytosis, and as part of a larger study, we have sequenced the transcriptomes of mast cells sorted from bone marrow biopsies of 3 patients in our cohort with aggressive disease and KitD816V mutation and 3 patients with aggressive disease, KitD816V and Tet2 mutation. Overall design: RNA-seq was performed on mast cells sorted from bone marrow biopsies of 3 patients in our cohort with aggressive disease and KitD816V mutation and 3 patients with aggressive disease, KitD816V and Tet2 mutation. Full patient profiles associated to each sample are published in Hanssens, K. et al. “SRSF2-p95 hotspot mutation is highly associated with advanced forms of mastocytosis and mutations in epigenetic regulator genes”. Haematologica 99, 830–835 (2014).