组织细胞瘤的认识和治疗进展。

IF 2.3 Q2 HEMATOLOGY
Kyung-Nam Koh, Su Hyun Yoon, Sung Han Kang, Hyery Kim, Ho Joon Im
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引用次数: 0

摘要

组织细胞瘤是涉及巨噬细胞、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生症(Langerhans cell histiocytosis,LCH)、埃尔德海姆-切斯特病(Erdheim-Chester disease,ECD)、罗赛-多夫曼病(Rosai-Dorfman disease,RDD)、幼年黄原细胞瘤(Juvenile xanthogranuloma,JXG)和组织细胞肉瘤。组织细胞肿瘤的临床过程和预后各不相同,因此需要对其分类、流行病学和临床表现有细致的了解。遗传学研究发现,组织细胞瘤的体细胞突变主要发生在 MAPK 通路上,这表明组织细胞瘤具有克隆性。本综述涵盖目前对组织细胞瘤、分子病理生理学的认识,尤其侧重于 BRAF、MAP2K1 和 PI3K-AKT 信号通路等基因的突变,以及不断发展的治疗策略,尤其侧重于 LCH、ECD、RDD 和 JXG。随着靶向疗法的发展,治疗格局也在不断变化。BRAF抑制剂,如维莫非尼(vemurafenib)和达拉菲尼(dabrafenib),已显示出疗效,尤其是在高风险LCH病例中;然而,挑战依然存在,包括治疗中断后的复发和不良反应。MEK抑制剂也显示出了疗效,而科比米替尼(cobimetinib)最近已被批准用于成人患者。确定最佳治疗时间和管理治疗中断的策略还需要进一步的研究。分子遗传学和靶向疗法的进步彻底改变了组织细胞肿瘤的治疗。然而,持续的研究对于优化患者的治疗效果至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Advancements in the understanding and management of histiocytic neoplasms.

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.

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来源期刊
Blood Research
Blood Research HEMATOLOGY-
CiteScore
3.70
自引率
0.00%
发文量
64
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