The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the WHO type of the disease.
Allergy
; 69(6): 810-3, 2014 Jun.
Article
in En
| MEDLINE
| ID: mdl-24750133
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mastocytosis
/
Proto-Oncogene Proteins c-kit
/
Alleles
/
Mutation
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Humans
Language:
En
Journal:
Allergy
Year:
2014
Document type:
Article
Affiliation country:
Austria