Institute of Pathology, Ludwig-Maximilians-University, Munich, Germany.
Int Arch Allergy Immunol. 2012;159(1):1-5. doi: 10.1159/000336374. Epub 2012 Apr 27.
Mast cell activation syndromes (MCAS) are clinically defined disease states with a largely unknown morphological background. Since mastocytosis may be associated with MCAS, it is crucial in every patient to document or exclude mastocytosis by appropriate histological, molecular, and serological investigations of tissues/organs that are commonly involved in mastocytosis like skin, mucosa of the gastrointestinal tract and bone marrow. Accordingly, histopathological investigation including immunohistological stains is crucial to reach the final diagnosis in such patients and to classify MCAS into primary MCAS, which can present with or without evidence of overt mastocytosis, or secondary MCAS, where an underlying disease with or without tissue inflammation is detected. Cases without evidence of mastocytosis, monoclonal mast cells, or any underlying disease should be termed idiopathic MCAS. When the activating point mutant KIT D816V is detectable but criteria for diagnosis of mastocytosis are not completely met, a so-called (mono)clonal MCAS as a subvariant of primary MCAS should be diagnosed.
肥大细胞激活综合征 (MCAS) 是具有很大未知形态学背景的临床定义疾病状态。由于肥大细胞增多症可能与 MCAS 相关，因此在每个患者中，通过对通常涉及肥大细胞增多症的组织/器官（如皮肤、胃肠道黏膜和骨髓）进行适当的组织学、分子和血清学研究来记录或排除肥大细胞增多症至关重要。因此，对于此类患者，组织病理学研究包括免疫组织化学染色对于达到最终诊断并将 MCAS 分为原发性 MCAS 至关重要，原发性 MCAS 可伴有或不伴有明显肥大细胞增多症，或继发性 MCAS，其中可检测到潜在疾病而无或有组织炎症。没有肥大细胞增多症、单克隆肥大细胞或任何潜在疾病证据的病例应称为特发性 MCAS。当可检测到激活点突变 KIT D816V 但不完全符合肥大细胞增多症诊断标准时，应诊断为所谓的 (单)克隆 MCAS 作为原发性 MCAS 的一个亚型。
