Department of Pathology, Odense University Hospital, Odense, Denmark.
Am J Hematol. 2014 May;89(5):493-8. doi: 10.1002/ajh.23672. Epub 2014 Feb 21.
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.
最近在敏感的 KIT D816V 突变分析方面的进展表明，外周血（PB）的突变分析代表了肥大细胞增多症有前途的诊断测试。然而，需要系统评估该方法的分析灵敏度和特异性，以确定其在临床应用中的价值。因此，我们评估了 PB 中敏感的 KIT D816V 突变分析作为肥大细胞增多症成年患者整个病例系列的诊断测试。我们首次证明，通过使用足够敏感的 KIT D816V 突变分析，几乎可以在所有成年肥大细胞增多症患者的 PB 中检测到该突变。在 83 例系统性肥大细胞增多症（94%）和 4 例皮肤肥大细胞增多症患者中的 78 例（75%）中检测到了 PB 中的突变。通过对所有检测结果均为阴性的临床相关对照患者进行分析，该测试的特异性为 100%。PB 突变分析的敏感性明显高于血清胰蛋白酶>20ng/mL。在 27 例胰蛋白酶低的患者中，26 例检测到突变阳性（96%）。该测试易于获得，我们认为结果为支持将该测试纳入肥大细胞增多症的诊断算法和临床实践提供了实验证据的基础。
