Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis.

Abstract:

:The recent progress in sensitive KIT D816V mutation analysis suggests that mutation analysis of peripheral blood (PB) represents a promising diagnostic test in mastocytosis. However, there is a need for systematic assessment of the analytical sensitivity and specificity of the approach in order to establish its value in clinical use. We therefore evaluated sensitive KIT D816V mutation analysis of PB as a diagnostic test in an entire case-series of adults with mastocytosis. We demonstrate for the first time that by using a sufficiently sensitive KIT D816V mutation analysis, it is possible to detect the mutation in PB in nearly all adult mastocytosis patients. The mutation was detected in PB in 78 of 83 systemic mastocytosis (94%) and 3 of 4 cutaneous mastocytosis patients (75%). The test was 100% specific as determined by analysis of clinically relevant control patients who all tested negative. Mutation analysis of PB was significantly more sensitive than serum tryptase >20 ng/mL. Of 27 patients with low tryptase, 26 tested mutation positive (96%). The test is furthermore readily available and we consider the results to serve as a foundation of experimental evidence to support the inclusion of the test in diagnostic algorithms and clinical practice in mastocytosis.

journal_name

Am J Hematol

authors

Kristensen T,Vestergaard H,Bindslev-Jensen C,Møller MB,Broesby-Olsen S,Mastocytosis Centre, Odense University Hospital (MastOUH).

doi

10.1002/ajh.23672

subject

Has Abstract

pub_date

2014-05-01 00:00:00

pages

493-8

issue

5

eissn

0361-8609

issn

1096-8652

journal_volume

89

pub_type

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