Histiocytic disorders.

Histiocytic disorders.
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组织细胞疾病。

DOI:
10.1038/s41572-021-00307-9
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发表时间:
2021-10-07
期刊:
Nature reviews. Disease primers
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历史术语“组织细胞增多症”(意为“组织细胞”)被用作以与巨噬细胞或树突状细胞共享组织学特征的致病性髓样细胞为特征的疾病的统一概念。这些细胞可能来自胚胎卵黄囊、胎肝或出生后的骨髓。先前的分类方案将疾病命名与终末表型相一致:例如,朗格汉斯细胞组织细胞增多症(LCH)与生理性表皮朗格汉斯细胞共享CD 207+抗原。LCH、Erdheim-Chester病(ECD)、幼年黄色肉芽肿(JXG)和Rosai-Dorfman病(RDD)的特征都是由MAPK途径基因中的激活体细胞突变驱动的病理性ERK激活。选择本《引物》的标题(“组织细胞疾病”)是为了将上述疾病与朗格汉斯细胞肉瘤和恶性组织细胞增多症区分开来,后者是典型的癌症过度增殖性病变。通过比较,LCH、ECD、RDD和JXG共享恶性细胞的一些特征,包括活化MAPK途径突变,但不是过度增殖的。“炎性骨髓增生性肿瘤”可能是一个更精确的命名法。相比之下,噬血细胞性淋巴组织细胞增生症(HLH)与巨噬细胞活化和极端炎症相关,代表免疫失调综合征。这些疾病对儿童和成人的影响程度各不相同,取决于所涉及的实体。
The historic term ‘histiocytosis’ meaning ‘tissue cell’ is used as a unifying concept for diseases characterized by pathogenetic myeloid cells that share histologic features with macrophages or dendritic cells. These cells may arise from the embryonic yolk sac, fetal liver, or post-natal bone marrow. Prior classification schemes align disease designation with terminal phenotype: for example, Langerhans cell histiocytosis (LCH) shares CD207+ antigen with physiologic epidermal Langerhans cells. LCH, Erdheim-Chester disease (ECD), juvenile xanthogranoluma (JXG), and Rosai-Dorfman disease (RDD) are all characterized by pathologic ERK activation driven by activating somatic mutations in MAPK pathway genes. The title of this Primer (‘Histiocytic Disorders’) was chosen to differentiate the above diseases from Langerhans cell sarcoma and malignant histiocytosis, which are hyper-proliferative lesions typical of cancer. By comparison LCH, ECD, RDD, and JXG share some features of malignant cells including activating MAPK pathway mutations, but are not hyper-proliferative. ‘Inflammatory myelo-proliferative neoplasm’ may be a more precise nomenclature. By contrast, hemohagocytic lymphohistiocytosis (HLH) is associated macrophage activation and extreme inflammation, representing a syndrome if immune dysregulation. These diseases affect children and adults in varying proportions depending on which of the entities is involved.
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