Abstract：
Histiocytosis is a group of rare diseases characterized by inflammation and accumulation of cells derived from monocytes and macrophages in different tissues. The symptoms are highly variable, from mild forms with involvement of a single organ to severe multisystem forms that can be life compromising. The diagnosis of histiocytosis is based on the clinic, radiological findings and pathological anatomy. A biopsy of the affected tissue is recommended in all cases as it may have therapeutic implications. During the last decade, some mutations have been identified in the affected tissue that condition activation of the MAPK/ERK and PI3K/AKT pathway, in a variable proportion depending on the type of histiocytosis. In this review we mainly focus on Langerhans Cell Histiocytosis, Erdheim-Chester Disease and Rosai-Dorfman Disease.
摘要：
组织细胞增生症是一组罕见的疾病，其特征是炎症和源自单核细胞和巨噬细胞的细胞在不同组织中的积累。症状变化很大，从涉及单个器官的轻度形式到可能危及生命的严重多系统形式。组织细胞增生症的诊断是基于临床，放射学发现和病理解剖。在所有情况下，建议对受影响的组织进行活检，因为它可能具有治疗意义。在过去的十年里，在受影响的组织中已鉴定出一些突变，这些突变会导致MAPK/ERK和PI3K/AKT通路的激活，取决于组织细胞增生症的类型。在这篇综述中，我们主要关注朗格汉斯细胞组织细胞增生症，Erdheim-Chester病和Rosai-Dorfman病。
