From the Institute of Haematology "L. e A. Seràgnoli", and Dermatology, Department of Specialised, Experimental, and Diagnostic Medicine, University of Bologna, Bologna, Italy.
J Natl Compr Canc Netw. 2015 Jun;13(6):715-8. doi: 10.6004/jnccn.2015.0086.
Langerhans cell histiocytosis (LCH) is a rare proliferative disease with a wide spectrum of clinical presentations and, as a consequence, the treatment choice is unclear. Recently, detection of the BRAF V600E mutation changed the perspective of this disease, suggesting a possible use for BRAF inhibitors in its treatment. Herein, a case is presented of a patient with LCH undergoing treatment with vemurafenib after several lines of therapy. After 4 months of vemurafenib treatment, skin lesions associated with cranial involvement were reduced in size at physical evaluation and nuclear imaging assessment showed a very good partial response, with the resolution of multiple lesions. Based on this very good partial response and because the patient tolerated treatment well, the patient was able to continue treatment with vemurafenib until disease progression nearly 10 months later. This approach should be considered for patients with severe and multiresistant LCH with a BRAF mutation. However, more studies are needed to evaluate the efficacy and duration of response in a larger patient population.
朗格汉斯细胞组织细胞增生症（LCH）是一种罕见的增生性疾病，临床表现广泛，因此治疗选择尚不明确。最近，BRAF V600E 突变的检测改变了对这种疾病的看法，提示 BRAF 抑制剂可能用于其治疗。本文报告了一例 LCH 患者，在接受多线治疗后接受维莫非尼治疗。维莫非尼治疗 4 个月后，体格检查和核成像评估显示颅骨受累相关的皮肤病变缩小，提示非常好的部分缓解，多个病变消退。基于这一非常好的部分缓解，且患者对治疗耐受良好，患者能够继续接受维莫非尼治疗，直到近 10 个月后疾病进展。对于有严重和多耐药性 LCH 且存在 BRAF 突变的患者，应考虑这种方法。然而，还需要更多的研究来评估更大患者群体中治疗的疗效和持续时间。
