Idiopathic anaphylaxis and systemic mastocytosis.
Idiopathic anaphylaxis and systemic mastocytosis.
复制标题
特发性过敏反应和系统性肥大细胞增多症。
DOI：
10.1007/s12185-019-02747-2
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发表时间：
2019
影响因子：
2.1
通讯作者：
Maric,Irina
中科院分区：
文献类型：
--
作者：
Francischetti,IvoMB;Maric,Irina
A 51-year-old Caucasian male presents with history of idiopathic anaphylaxis and gastrointestinal symptoms including diarrhea, abdominal pain and dyspepsia. He reported delayed and immediate reactions to red meat, and allergic rhinitis symptoms when exposed to cats. CBC and BMP were within normal range, except for IgE 150 IU/ml (reference: 0–90 IU/ml) and tryptase 25 ng/ml (reference:< 11.5 ng/ml). Bone marrow biopsy was performed to evaluate for mastocytosis. Figure 1 shows H&E of a normocellular marrow with a nodular infiltrate (panel a, 40×) consisting of aggregates of atypical mast cells (> 15 cells)(panel b, 400×), admixed with lymphocytes and eosinophils (panel c, 1000×). Immunohistochemistry revealed mast cells positive for CD117 (panel d, 400×), tryptase (panel e, 400×), CD25 (panel f, 400×), variable CD2 (panel g, 400×), and dim CD30 (panel h, 400×). Aspirate smear showed atypical morphology of mast cells including spindled (panel i, 1000×) and degranulated forms (not shown). Flow cytometry demonstrated cells positive for CD117 (bright)(not shown) with aberrant expression of CD25 and CD2 (spectrum)(panel j). In addition, real-time PCR detected KITD816V mutation. No evidence for an associated hematological neoplasm was present. Altogether, these findings fulfill the criteria for systemic mastocytosis (SM) according to the WHO 2016 guidelines. This presentation underscores the importance of complete investigation for clonal mast cell disorders in patients with idiopathic anaphylaxis and highlights the indolent course of SM in a subpopulation of patients [1].
