PDF(Pubmed)
Abstract：
Histiocytic neoplasms are rare diseases involving macrophages, dendritic cells, and monocytes. They include Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD), Rosai-Dorfman disease (RDD), juvenile xanthogranuloma (JXG), and histiocytic sarcoma. Histiocytic neoplasms are characterized by varied clinical courses and prognoses, necessitating a nuanced understanding of their classification, epidemiology, and clinical manifestations. Genetic studies have revealed somatic mutations, predominantly in the MAPK pathway, suggesting a clonal neoplastic nature. This review covers the current understanding of histiocytic neoplasms, molecular pathophysiology, with a particular focus on mutations in genes such as BRAF, MAP2K1, and the PI3K-AKT signaling pathways, and evolving treatment strategies, especially focusing on LCH, ECD, RDD, and JXG. The treatment landscape has evolved with advancements in targeted therapies. BRAF inhibitors, such as vemurafenib and dabrafenib, have shown efficacy, especially in high-risk LCH cases; however, challenges remain, including relapse post-treatment discontinuation, and adverse effects. MEK inhibitors have also demonstrated effectiveness, and cobimetinib has recently been approved for use in adults. Further research is required to determine the optimal treatment duration and strategies for managing therapy interruptions. Advancements in molecular genetics and targeted therapies have revolutionized the management of histiocytic neoplasms. However, ongoing research is crucial for optimizing patient outcomes.
摘要：
组织细胞肿瘤是涉及巨噬细胞的罕见疾病，树突状细胞,和单核细胞。它们包括朗格汉斯细胞组织细胞增生症（LCH），埃尔德海姆-切斯特病（ECD），Rosai-Dorfman病(RDD),青少年黄色肉芽肿（JXG），和组织细胞肉瘤.组织细胞肿瘤的特点是不同的临床过程和预后，需要对它们的分类有细微的理解，流行病学,和临床表现。遗传研究揭示了体细胞突变，主要在MAPK通路中，暗示了克隆性肿瘤的性质。这篇综述涵盖了目前对组织细胞肿瘤的理解，分子病理生理学，特别关注BRAF等基因的突变，MAP2K1和PI3K-AKT信号通路，和不断发展的治疗策略，特别是关注LCH，ECD,RDD,和JXG。治疗环境随着靶向治疗的进步而发展。BRAF抑制剂,比如vemurafenib和dabrafenib,已经显示出功效，特别是在高风险的LCH病例中；然而，挑战依然存在,包括治疗停止后的复发，和不利影响。MEK抑制剂也已证明有效，和cobimetinib最近被批准用于成人.需要进一步研究以确定最佳治疗持续时间和管理治疗中断的策略。分子遗传学和靶向治疗的进步彻底改变了组织细胞肿瘤的管理。然而,正在进行的研究对于优化患者预后至关重要.
