BRAF基因突变在儿童朗格汉斯细胞组织细胞增生症中的研究进展

Progress of BRAF gene mutation in children with langerhans cell histiocytosis

朗格汉斯细胞组织细胞增生症（1angerhans cell histiocytosis，LCH）是一种以朗格汉斯细胞（1angerhans cells，LC）克隆性增生和聚集为特点的罕见疾病，其发病机制一直存在争议。近年，在LCH患者样本中重复检测到BRAF基因突变，提示BRAF基因突变可能驱动了LCH发生、发展，并且可能与其临床化疗反应及预后有联系。这一发现不仅为LCH作为一种肿瘤性疾病提供了证据，也为开展LCH的靶向治疗奠定了分子遗传学基础。

Langerhans cell histiocytosis（LCH） is a rare disease characterized by clonal proliferation and aggregation of LCH cells（ Langerhans ceUs,LCs） ,and there has been controversy about its pathogenesis. In re- cent years, BRAF mutations have been detected repeatedly in LCH patients, suggesting that the BRAF gene mu- tation may drive the occurrence and development of LCH,and may be associated with clinical chemotherapy and prognosis. These findings not only provide evidence for LCH as a tumor disease ,but also lay a molecular genetic basis for the development of targeted therapy for LCH.