Abstract:
: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% of patients, respectively. Where TET2 and SRSF2-P95 mutation both correlated with advanced disease phenotypes, SRSF2-P95 hotspot mutation was found almost exclusively in patients diagnosed with associated clonal hematologic non-mast cell disease. Statistically, TET2 and SRSF2-P95 mutations were highly associated, suggesting a mechanistic link between these two factors. Finally, analysis of both clonal and sorted cell populations from patients confirms the presence of these mutations in the mast cell component of the disease, suggests an ontological mutation hierarchy and provides evidence for the expansion of multiple clones. This highlights the prognostic potential of such approaches, if applied systematically, for delineating the roles of specific mutations in predisposing and/or driving distinct disease phenotypes.
journal_name
Haematologicajournal_title
Haematologicaauthors
Hanssens K,Brenet F,Agopian J,Georgin-Lavialle S,Damaj G,Cabaret L,Chandesris MO,de Sepulveda P,Hermine O,Dubreuil P,Soucie Edoi
10.3324/haematol.2013.095133subject
Has Abstractpub_date
2014-05-01 00:00:00pages
830-5issue
5eissn
0390-6078issn
1592-8721pii
haematol.2013.095133journal_volume
99pub_type
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