title: The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the WHO type of the disease.
abstract: 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.
authors.affiliation: Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
authors.forename: G
authors.initials: G
authors.lastname: Hoermann
authors.forename: K V
authors.initials: KV
authors.lastname: Gleixner
authors.forename: G E
authors.initials: GE
authors.lastname: Dinu
authors.forename: M
authors.initials: M
authors.lastname: Kundi
authors.forename: G
authors.initials: G
authors.lastname: Greiner
authors.forename: F
authors.initials: F
authors.lastname: Wimazal
authors.forename: E
authors.initials: E
authors.lastname: Hadzijusufovic
authors.forename: G
authors.initials: G
authors.lastname: Mitterbauer
authors.forename: C
authors.initials: C
authors.lastname: Mannhalter
authors.forename: P
authors.initials: P
authors.lastname: Valent
authors.forename: W R
authors.initials: WR
authors.lastname: Sperr
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D006801:Humans; D008415:Mastocytosis / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality* / Q000628:therapy; D009154:Mutation; D011379:Prognosis; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit
keywords: KIT D816V; allele burden; mastocytosis; survival; treatment response
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