Grana Nanette
All Children's Hospital, St Petersburg, FL 33701, USA.
Cancer Control. 2014 Oct;21(4):328-34. doi: 10.1177/107327481402100409.
Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder of unknown etiopathogenesis. Its clinical presentation is variable and ranges from isolated skin or bone disease to a life-threatening multisystem condition. LCH can occur at any age but is more frequent in the pediatric population. A neoplastic origin of this disease has been suggested due to the discovery of the mutually exclusive activating somatic BRAF V600E and MAP2K1 gene mutations that occur in about 75% of patients.
A survey of recent literature focused on the diagnosis, management, and prognosis of Langerhans cell histiocytosis. Data were collected, analyzed, and discussed with an emphasis on contemporary clinical practice.
LCH is common in the pediatric population; compared with adults, children usually have a more aggressive clinical course that requires systemic chemotherapy. Patients with low-risk LCH have an excellent prognosis and a long-term survival rate that may be as high as 99%; by contrast, patients with high-risk LCH have a survival rate close to 80%. Typically, adult patients present with limited skin or bone involvement that can be treated with surgical resection or focal radiation therapy, resulting in an overall survival rate of 100%. Smoking cessation can result in the improvement of respiratory symptoms and the spontaneous resolution of pulmonary LCH. Targeted therapy with BRAF inhibitors has been used in select patients with LCH, and the results have been encouraging.
Our understanding of LCH has improved in the last 20 years. Available treatment regimens can control the disease in the majority of patients. The discovery of novel driver mutations and the development of targeted therapy promise better outcomes with fewer long-term therapy-related adverse events, particularly for pediatric and adolescent patients.
朗格汉斯细胞组织细胞增多症（LCH）是一种病因不明的罕见组织细胞疾病。其临床表现多样，从孤立的皮肤或骨骼疾病到危及生命的多系统疾病不等。LCH可发生于任何年龄，但在儿童群体中更为常见。由于发现约75%的患者存在相互排斥的激活型体细胞BRAF V600E和MAP2K1基因突变，提示该疾病起源于肿瘤。
对近期关于朗格汉斯细胞组织细胞增多症的诊断、治疗和预后的文献进行综述。收集、分析并讨论数据，重点关注当代临床实践。
LCH在儿童群体中较为常见；与成人相比，儿童通常有更具侵袭性的临床病程，需要全身化疗。低风险LCH患者预后良好，长期生存率可能高达99%；相比之下，高风险LCH患者的生存率接近80%。通常，成年患者表现为局限性皮肤或骨骼受累，可通过手术切除或局部放射治疗，总体生存率为100%。戒烟可改善呼吸道症状并使肺部LCH自发缓解。BRAF抑制剂靶向治疗已用于部分LCH患者，结果令人鼓舞。
在过去20年中，我们对LCH的认识有所提高。现有的治疗方案可在大多数患者中控制疾病。新驱动基因突变的发现和靶向治疗的发展有望带来更好的治疗效果，且长期治疗相关不良事件更少，特别是对于儿童和青少年患者。
