The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the WHO type of the disease. Issue 6 (17th April 2014)

• Record Type: Journal Article
• Authors: 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.
• Is Part Of: Allergy. Volume 69:Issue 6(2014:Jun.)
• Page Start: 810
• Page End: 813
• Publication Date: 2014-04-17
• Subjects: Allergy -- Periodicals; 616.97
• DOI: 10.1111/all.12409
• Languages: English
• ISSNs: 0105-4538

Abstract

<abstract abstract-type="main" id="all12409-abs-0001"> <title>Abstract</title> <p> <italic>KIT</italic> D816V is present in a majority of patients with systemic mastocytosis (SM). We determined the <italic>KIT</italic> D816V allele burden by quantitative real‐time PCR in bone marrow and peripheral blood of 105 patients with mastocytosis. <italic>KIT</italic> 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%) (<italic>P </italic>&lt;<italic> </italic>0.001). The <italic>KIT</italic> D816V burden also correlated with serum tryptase (<italic>R </italic>=<italic> </italic>0.5, <italic>P </italic>&lt;<italic> </italic>0.005) but not with mast cell infiltration in bone marrow or mediator symptoms. Moreover, the allele burden was of prognostic significance regarding survival (<italic>P </italic>&lt;<italic> </italic>0.01). Patients responding to cytoreductive therapy showed a significant decrease in <italic>KIT</italic> D816V (<italic>P </italic>&lt;<italic> </italic>0.05). To conclude, the <italic>KIT</italic> D816V burden correlates with the variant of mastocytosis, predicts survival, and is a valuable follow‐up parameter in SM.</p> </abstract>