组织细胞肿瘤是一种涉及巨噬细胞、树突状细胞和单核细胞的罕见疾病。它们包括朗格汉斯细胞组织细胞增多症 (LCH)、埃尔德海姆-切斯特病 (ECD)、罗赛-多夫曼病 (RDD)、幼年黄色肉芽肿 (JXG) 和组织细胞肉瘤。组织细胞肿瘤的特点是具有不同的临床过程和预后，因此需要对其分类、流行病学和临床表现有细致的了解。遗传学研究揭示了体细胞突变，主要发生在 MAPK 通路中，表明其具有克隆性肿瘤性质。这篇综述涵盖了目前对组织细胞肿瘤、分子病理生理学的理解，特别关注 BRAF、MAP2K1 和 PI3K-AKT 信号通路等基因突变，以及不断发展的治疗策略，特别关注 LCH、ECD、RDD 和JXG。随着靶向治疗的进步，治疗领域也在不断发展。 BRAF抑制剂，如维莫非尼和达拉非尼，已显示出疗效，特别是在高危LCH病例中；然而，挑战仍然存在，包括治疗停止后复发和不良反应。 MEK 抑制剂也被证明有效，cobimetinib 最近已被批准用于成人。需要进一步的研究来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治疗。然而，正在进行的研究对于优化患者治疗效果至关重要。© 2024。作者。

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.© 2024. The Author(s).