Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event

@article{Jawhar2015MolecularPO,
  title={Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event},
  author={Mohamad Jawhar and Juliana Schwaab and Susanne Schnittger and Karl Sotlar and H P Horny and Georgia Metzgeroth and Nora M{\"u}ller and Stephanie Schneider and Nicole Naumann and Christoph Walz and Torsten Haferlach and Peter Valent and W K Hofmann and Nicholas C P Cross and Alice Fabarius and A. Reiter},
  journal={Leukemia},
  year={2015},
  volume={29},
  pages={1115-1122}
}
To explore the molecular profile and its prognostic implication in systemic mastocytosis (SM), we analyzed the mutation status of granulocyte–macrophage colony-forming progenitor cells (CFU-GM) in patients with KIT D816V+ indolent SM (ISM, n=4), smoldering SM (SSM, n=2), aggressive SM (ASM, n=1), SM with associated clonal hematologic non-mast cell lineage disorder (SM-AHNMD, n=5) and ASM-AHNMD (n=7). All patients with (A)SM-AHNMD (n=12) carried 1–4 (median 3) additional mutations in 11 genes… CONTINUE READING
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