期刊
ALLERGY
卷 69, 期 6, 页码 810-813出版社
WILEY
DOI: 10.1111/all.12409
关键词
allele burden; KIT; D816V; mastocytosis; survival; treatment response
资金
- Austrian National Science Fund (FWF) [P26079-B13]
- SFB [F4704-B20]
- Austrian Science Fund (FWF) [P26079] Funding Source: Austrian Science Fund (FWF)
- Austrian Science Fund (FWF) [P 26079] Funding Source: researchfish
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.
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