眼部组织细胞增生症诊疗进展

Progress in the diagnosis and treatment of ocular histiocytosis

摘要:

眼部组织细胞增生症是一组罕见的成人及儿童均可发病的异质性疾病，其临床及影像学表现无特异性，临床上该类疾病的诊疗存在巨大困难。随着对组织细胞增生症分子机制的研究，BRAF^V600E突变基因的发现使人们对组织细胞增生症有了进一步的认识，也使多数患者能够得到针对性的治疗。诊断的金标准发展为组织病理活检联合突变基因的检测，治疗方式不再是单一的手术切除治疗，靶向治疗对MAPK-ERK通路中突变基因阳性的患者也有极好的疗效。但是眼部组织细胞增生症类型众多且常常涉及多个系统，临床表现多样，对其早期、正确地诊断仍面临挑战。因此本文就近年眼部组织细胞增生症的诊疗进展进行文献复习，总结眼部组织细胞增生症的临床病理特征并对最新的治疗进展进行综述，旨在提高临床医生对该疾病的诊疗水平。

Abstract:

Ocular histiocytosis is a rare and heterogeneous group of disorders which can occur in children and adults. There is a great challenge in the diagnosis and treatment because of the atypical clinical and imaging manifestations. With insights into molecular mechanism of histiocytosis, the discovery of BRAF^V600E mutations has changed the understanding of this disease and enabled targeted therapies in most patients. The gold standard of diagnosis has developed into histopathological biopsy combined with the testing for mutations. Surgery is not the only treatment for ocular histiocytosis and targeted therapy has become an effective treatment for patients with mutations in MAPK-ERK signal-regulated kinase pathway. However, the greatest challenge for ocular histiocytosis is establishing the early and correct diagnosis due to the diverse types and clinical manifestations. Therefore, this article reviews recent progress in diagnosing and treating ocular histiocytosis, summarizes their clinical and pathological features, and aims to improve the level of diagnosis and treatment among clinicians.