SRSF2-p95 hotspot mutation is highly associated with advanced forms of mastocytosis and mutations in epigenetic regulator genes.

@article{Hanssens2014SRSF2p95HM,
  title={SRSF2-p95 hotspot mutation is highly associated with advanced forms of mastocytosis and mutations in epigenetic regulator genes.},
  author={Katia Hanssens and Fabienne Brenet and Julie Agopian and Sophie Georgin-Lavialle and Gandhi Damaj and Laure Cabaret and Maria Olivia Chandesris and Paulo de Sepulveda and Olivier Hermine and Patrice Dubreuil and Erinn L. Soucie},
  journal={Haematologica},
  year={2014},
  volume={99 5},
  pages={830-5}
}
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 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… CONTINUE READING
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