Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
Br J Haematol. 2012 Jan;156(2):163-72. doi: 10.1111/j.1365-2141.2011.08915.x. Epub 2011 Oct 24.
Langerhans cell histiocytosis (LCH) is a proliferative disease of cells that share phenotypic characteristics with the primary antigen presenting cells of the epidermis. Its clinical manifestations are highly variable, extending from very benign forms to a disseminated, aggressive disease that causes significant mortality. Although many of the fundamental pathogenetic features of LCH have been enigmatic, recent advances have led to a much clearer understanding of the disease. In particular, careful molecular analyses of mouse models and human LCH samples suggest that LCH's cell of origin may not be the epidermal LC itself but a myeloid-derived precursor. Advanced genomic technologies have revealed the presence of activating, somatic BRAF mutations in the majority of patient specimens. Together, these observations have produced a new picture of LCH as a myeloid neoplasm. These advances are likely to have profound implications for the use of targeted therapeutics in LCH.
朗格汉斯细胞组织细胞增生症（LCH）是一种增殖性疾病，其细胞具有与表皮主要抗原呈递细胞相似的表型特征。其临床表现高度多样化，从非常良性的形式到播散性、侵袭性疾病，导致显著的死亡率。尽管 LCH 的许多基本发病机制特征仍然难以解释，但最近的进展使人们对该病有了更清晰的认识。特别是，对小鼠模型和人类 LCH 样本的仔细分子分析表明，LCH 的起源细胞可能不是表皮 LC 本身，而是髓样来源的前体。先进的基因组技术揭示了大多数患者标本中存在激活的、体细胞 BRAF 突变。这些观察结果共同描绘了 LCH 作为髓样肿瘤的新图景。这些进展很可能对 LCH 中靶向治疗药物的应用产生深远影响。
