肥大细胞增多症是一种克隆性骨髓疾病，定义为一个或多个器官系统中肥大细胞 (MC) 的增加和积累。肥大细胞增多症的复杂病理导致不同的临床表现、病程和结果。世界卫生组织 (WHO) 将这种疾病分为皮肤肥大细胞增多症 (CM)、多种形式的系统性肥大细胞增多症 (SM) 和 MC 肉瘤。在大多数 SM 患者中，发现了体细胞 KIT 突变，通常是 D816V。诊断为 CM 或非晚期 SM（包括惰性 SM）的患者的预期寿命接近正常，而晚期 SM（包括侵袭性 SM 和 MC 白血病）患者的预期寿命有限。自 2001 年以来，由来自欧洲肥大细胞增多症能力网络 (ECNM) 和美国肥大细胞疾病倡议 (AIM) 的专家组成的多学科共识小组通过制定肥大细胞增多症诊断标准来支持该领域。这些标准是二十年来世界卫生组织对肥大细胞增多症分类的基础。最近，一个国际共识小组（ICC）提出了稍微修改的诊断标准和稍微修改的分类。本文将讨论这些变化。此外，我们建议协调 AIM/ECNM 共识小组、WHO 和 ICC 的提案。这种协调将有助于回顾性研究结果和前瞻性试验的进行进行比较。版权所有 © 2024。由 Elsevier Inc. 出版。

Mastocytosis is a clonal myeloid disorder defined by an increase and accumulation of mast cells (MC) in one or multiple organ systems. The complex pathology of mastocytosis results in variable clinical presentations, courses, and outcomes. The World Health Organization (WHO) divides the disease into cutaneous mastocytosis (CM), several forms of systemic mastocytosis (SM), and MC sarcoma. In most SM patients, a somatic KIT mutation, usually D816V, is identified. Patients diagnosed with CM or non-advanced SM, including indolent SM, have a near-normal life-expectancy, whereas those with advanced SM, including aggressive SM and MC leukemia, have limited life-expectancy. Since 2001, a multidisciplinary consensus group consisting of experts from the European Competence Network on Mastocytosis (ECNM) and American Initiative in Mast Cell Diseases (AIM), has supported the field by developing diagnostic criteria for mastocytosis. These criteria served as the basis for the WHO classification of mastocytosis over two decades. More recently, an international consensus group (ICC) proposed slightly modified diagnostic criteria and a slightly revised classification. In this article, these changes are discussed. Furthermore, we propose harmonization among the proposals of the AIM/ECNM consensus group, WHO, and ICC. Such harmonization will facilitate comparisons of retrospective study results and the conduct of prospective trials.Copyright © 2024. Published by Elsevier Inc.