肥大细胞增多症发病机制的新认识:诊断和治疗的新概念。

Peter Valent, Cem Akin, Wolfgang R Sperr, Hans-Peter Horny, Michel Arock, Dean D Metcalfe, Stephen J Galli
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引用次数: 12

摘要

肥大细胞增多症是一种异质性肿瘤,其特征是克隆肥大细胞(MCs)在各器官系统中的数量增加和积累。该病可表现为皮肤肥大细胞增多症或全身肥大细胞增多症。根据组织病理学和分子特征、临床变量和器官受累情况,SM分为惰性SM、阴燃SM、伴血液学肿瘤SM、侵袭性SM和MC白血病。每种变异都有独特的诊断标准和独特的临床表现。MC扩增和疾病进化的关键驱动因素是KIT突变形式触发的致癌机制。遗传背景、额外的体细胞突变和合并症也影响病程和预后。SM患者还可能出现与介质相关的症状,甚至是MC激活综合征。本文介绍了肥大细胞增多症的遗传学、病因学和病理学的最新概念,重点介绍了肥大细胞增多症的诊断标准和新的治疗概念。
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New Insights into the Pathogenesis of Mastocytosis: Emerging Concepts in Diagnosis and Therapy.

Mastocytosis is a heterogeneous group of neoplasms defined by a numerical increase and accumulation of clonal mast cells (MCs) in various organ systems. The disease may present as cutaneous mastocytosis or systemic mastocytosis (SM). On the basis of histopathological and molecular features, clinical variables, and organ involvement, SM is divided into indolent SM, smoldering SM, SM with an associated hematologic neoplasm, aggressive SM, and MC leukemia. Each variant is defined by unique diagnostic criteria and a unique spectrum of clinical presentations. A key driver of MC expansion and disease evolution is the oncogenic machinery triggered by mutant forms of KIT. The genetic background, additional somatic mutations, and comorbidities also contribute to the course and prognosis. Patients with SM may also suffer from mediator-related symptoms or even an MC activation syndrome. This article provides an update of concepts on the genetics, etiology, and pathology of mastocytosis, with emphasis on diagnostic criteria and new treatment concepts.

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来源期刊
CiteScore
62.60
自引率
0.00%
发文量
40
期刊介绍: The Annual Review of Pathology: Mechanisms of Disease is a scholarly journal that has been published since 2006. Its primary focus is to provide a comprehensive overview of recent advancements in our knowledge of the causes and development of significant human diseases. The journal places particular emphasis on exploring the current and evolving concepts of disease pathogenesis, as well as the molecular genetic and morphological changes associated with various diseases. Additionally, the journal addresses the clinical significance of these findings. In order to increase accessibility and promote the broad dissemination of research, the current volume of the journal has transitioned from a gated subscription model to an open access format. This change has been made possible through the Annual Reviews' Subscribe to Open program, which allows all articles published in this volume to be freely accessible to readers. As part of this transition, all articles in the journal are published under a Creative Commons Attribution (CC BY) license, which encourages open sharing and use of the research.
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