Mast cell disorders range from benign proliferations to systemic diseases that cause anaphylaxis and other diverse symptoms to mast cell neoplasms with varied clinical outcomes. Mastocytosis is the pathologic process of the accumulation of abnormal mast cells in different organs, mostly driven byKITmutations, and can present as cutaneous mastocytosis, systemic mastocytosis (SM), and mast cell sarcoma. The WHO 5th edition classification divides systemic mastocytosis into bone marrow mastocytosis, indolent systemic mastocytosis, smoldering systemic mastocytosis, aggressive systemic mastocytosis, systemic mastocytosis with an associated hematologic neoplasm, and mast cell leukemia. The new ICC classifies SM slightly differently. The diagnosis of SM requires the integration of bone marrow morphologic, immunophenotypic, and molecular findings, as well as clinical signs and symptoms. Moreover, understanding the wide range of clinical presentations for patients with mast cell disorders is necessary for accurate and timely diagnosis. This review provides an updated overview of mast cell disorders, with a special emphasis on SM, including the latest approaches to diagnosis, prognostic stratification, and management of this rare disease.
肥大细胞疾病谱系广泛，涵盖从良性增殖到引发过敏反应及其他多种症状的系统性疾病，乃至临床结局各异的肥大细胞肿瘤。肥大细胞增多症是异常肥大细胞在不同器官中积累的病理过程，主要由KIT基因突变驱动，可表现为皮肤肥大细胞增多症、系统性肥大细胞增多症（SM）和肥大细胞肉瘤。世界卫生组织第五版分类将系统性肥大细胞增多症分为骨髓肥大细胞增多症、惰性系统性肥大细胞增多症、冒烟型系统性肥大细胞增多症、侵袭性系统性肥大细胞增多症、伴相关血液肿瘤的系统性肥大细胞增多症以及肥大细胞白血病。新版国际共识分类对SM的分类略有不同。SM的诊断需综合骨髓形态学、免疫表型、分子学发现以及临床体征和症状。此外，准确理解肥大细胞疾病患者多样化的临床表现对于及时精确诊断至关重要。本综述提供肥大细胞疾病的最新概述，特别聚焦系统性肥大细胞增多症，包括这一罕见疾病的最新诊断方法、预后分层及管理策略。
Review and Updates on Systemic Mastocytosis and Related Entities
肿瘤(癌症)患者之家