Patients with mast cell activation symptoms and elevated baseline serum tryptase level have unique bone marrow morphology
Patients with mast cell activation symptoms and elevated baseline serum tryptase level have unique bone marrow morphology
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DOI：
10.1016/j.jaci.2020.11.017
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发表时间：
2021-04-05
影响因子：
14.2
通讯作者：
Pozdnyakova, Olga
中科院分区：
文献类型：
--
作者：
Giannetti, Matthew P.;Akin, Cem;Pozdnyakova, Olga
背景资料：肥大细胞（MC）活化症状和血清类胰蛋白酶水平（MCAS-T）基线升高的患者可能不一定有克隆MC疾病。许多人被诊断患有遗传性α-类胰蛋白酶血症（HaT），这是一种遗传性状，其特征是编码α-类胰蛋白酶的TPSAB1的多拷贝常染色体显性遗传，并增加了严重过敏反应的风险。目的：我们研究的目的是识别和表征MCAS-T特异性骨髓MC组织病理学特征。共有43例MCAS-T患者接受了MC疾病的评估，包括骨髓活检。克隆性MC疾病（如系统性肥大细胞增多症和单克隆MC活化综合征）的检查结果为阴性。对骨髓MC组织病理学进行了审查，以确定MCAS-T的特征。一个亚组的患者可用于类胰蛋白酶genotyping.Results：与对照组相比，MCAS-T患者表现出独特的形态学和组织学特征。MC较大（P <0.01），颗粒少（P <0.01），常在小梁旁（P <0.05）和血管周围（P <0.01）部位检出，并与骨髓嗜酸性粒细胞增多相关（P <0.01）。共有10例可进行类胰蛋白酶基因分型的患者均被证实患有HaT。这个亚组是代表较大的MCAS-T cohol.Conclusion：我们报告独特的骨髓MC表型和组织病理学变化的MCAS-T患者。这些形态学变化与类胰蛋白酶水平升高相关，已证实在所有可用于检测的患者中由HaT引起。（J Allergy Clin Immunol 2021; 147：1497 - 501.）
Background: Patients with mast cell (MC) activation symptoms and elevated baseline serum tryptase level (MCAS-T) may not necessarily have a clonal MC disorder. Many are diagnosed with hereditary a-tryptasemia (HaT), a genetic trait characterized by autosomal dominant inheritance of multiple copies of TPSAB1 encoding a-tryptase and increased risk for severe anaphylaxis.Objective: The aim of our study was to identify and characterize bone marrow MC histopathologic features specific for MCAS-T.Methods: A total of 43 patients with MCAS-T underwent evaluation, including bone marrow biopsy, for a MC disorder. The results of the work-up for clonal MC disorders such as systemic mastocytosis and monoclonal MC activation syndrome were negative. Bone marrow MC histopathology was reviewed to identify characteristic features of MCAS-T. A subgroup of patients was available for tryptase genotyping.Results: Patients with MCAS-T showed unique morphologic and histologic features when compared with controls. MCs were larger (P < .01), hypogranular (P < .01), frequently detected in paratrabecular (P < .05) and perivascular (P < .01) locations, and associated with bone marrow eosinophilia (P < .01). A total of 10 patients who were available for tryptase genotyping were all confirmed to have HaT. This subgroup was representative of the larger MCAS-T cohort.Conclusion: We report unique bone marrow MC phenotypic and histopathologic changes in patients with MCAS-T. These morphologic changes are associated with an elevated tryptase level that has been confirmed to be caused by HaT in all patients available for testing. (J Allergy Clin Immunol 2021;147:1497-501.)