Faculty of Medicine and Health Sciences, Department of Immunology, Allergology, and Rheumatology and the Infla-Med Centre of Excellence University of Antwerp; and Department of Immunology, Allergology, and Rheumatology, Antwerp University Hospital, Antwerp, Belgium.
Faculty of Medicine and Health Sciences, Department of Immunology, Allergology, and Rheumatology and the Infla-Med Centre of Excellence University of Antwerp; and Department of Immunology, Allergology, and Rheumatology, Antwerp University Hospital, Antwerp, Belgium; Department of Immunology and Allergology, AZ Jan Palfijn Gent, Ghent, Belgium.
J Allergy Clin Immunol Pract. 2021 Aug;9(8):3176-3187.e3. doi: 10.1016/j.jaip.2021.04.062. Epub 2021 May 8.
Anaphylaxis is frequent in patients suffering from primary mast cell disorders (PMCDs). In patients without mastocytosis in the skin (MIS) and a baseline serum tryptase (bST) less than 30 ng/mL, the diagnosis of PMCD is challenging. In these patients, detection of the KIT D816V mutation in peripheral blood (PB) has been suggested as screening tool for a PMCD.
In this study, we investigated whether KIT D816V in PB can contribute to the decision to perform a bone marrow (BM) biopsy in patients with anaphylaxis without MIS and a bST less than 30 ng/mL.
We selected 74 patients with severe anaphylaxis without MIS and a bST less than 30 ng/mL. All underwent a BM biopsy. KIT D816V mutation was quantified in both PB and BM using digital droplet polymerase chain reaction (ddPCR).
Diagnosis of a PMCD was established in 40 patients (54%). Median bST for patients with and without PMCD was, respectively, 9.5 ng/mL (range 4.2-27 ng/mL) and 4.9 ng/mL (range 2.2-20.3 ng/mL) (P <.001). KIT D816V in PB was detected in 16 out of 40 (40%) patients with PMCD. KIT D816V in BM was detected in 22 out of 40 (55%) patients with PMCD.
In patients without MIS and a bST less than < 30 ng/mL who experience anaphylaxis, determination of KIT D816V mutation in PB is of limited help in deciding when to proceed to a BM biopsy. Therefore, KIT D816V in PB mutation analysis should be interpreted together with scoring tools to make a better assessment in identifying patients who should undergo BM biopsy.
原发性肥大细胞疾病（PMCD）患者常发生过敏反应。在皮肤无肥大细胞增多症（MIS）且基础血清类胰蛋白酶（bST）<30ng/mL 的患者中，PMCD 的诊断具有挑战性。在这些患者中，外周血（PB）中 KIT D816V 突变的检测已被提议作为 PMCD 的筛查工具。
本研究旨在探讨 PB 中的 KIT D816V 是否有助于决定对无 MIS 和 bST<30ng/mL 的过敏反应患者进行骨髓（BM）活检。
我们选择了 74 例无 MIS 和 bST<30ng/mL 的严重过敏反应患者。所有患者均行 BM 活检。采用数字液滴聚合酶链反应（ddPCR）检测 PB 和 BM 中 KIT D816V 突变。
40 例（54%）患者诊断为 PMCD。PMCD 患者和非 PMCD 患者的中位 bST 分别为 9.5ng/mL（范围 4.2-27ng/mL）和 4.9ng/mL（范围 2.2-20.3ng/mL）（P<0.001）。40 例 PMCD 患者中有 16 例（40%）检测到 PB 中的 KIT D816V。40 例 PMCD 患者中有 22 例（55%）检测到 BM 中的 KIT D816V。
在无 MIS 和 bST<30ng/mL 的过敏反应患者中，PB 中 KIT D816V 突变的测定在决定何时进行 BM 活检时帮助有限。因此，PB 中 KIT D816V 突变分析应与评分工具一起解释，以更好地评估确定哪些患者应行 BM 活检。
