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The KIT D 816 V allele burden predicts survival in patients with mastocytosis and correlates with the WHO type of the disease
Author(s) -
Hoermann G.,
Gleixner K. V.,
Dinu G. E.,
Kundi M.,
Greiner G.,
Wimazal F.,
Hadzijusufovic E.,
Mitterbauer G.,
Mannhalter C.,
Valent P.,
Sperr W. R.
Publication year - 2014
Publication title -
allergy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.363
H-Index - 173
eISSN - 1398-9995
pISSN - 0105-4538
DOI - 10.1111/all.12409
Subject(s) - systemic mastocytosis , bone marrow , mast cell , medicine , allele , immunology , biology , biochemistry , gene
KIT D816V is present in a majority of patients with systemic mastocytosis ( SM ). We determined the KIT D816V allele burden by quantitative real‐time PCR in bone marrow and peripheral blood of 105 patients with mastocytosis. KIT D816V was detected in 92/105 patients (88%). Significant differences in the median allele burden were observed between disease subgroups: cutaneous mastocytosis (0.042%), indolent SM (0.285%), smoldering SM (5.991%), aggressive SM (9.346%), and SM with associated hematologic non‐mast cell lineage disease (3.761%) ( P < 0.001). The KIT D816V burden also correlated with serum tryptase ( R = 0.5, P < 0.005) but not with mast cell infiltration in bone marrow or mediator symptoms. Moreover, the allele burden was of prognostic significance regarding survival ( P < 0.01). Patients responding to cytoreductive therapy showed a significant decrease in KIT D816V ( P < 0.05). To conclude, the KIT D816V burden correlates with the variant of mastocytosis, predicts survival, and is a valuable follow‐up parameter in SM .