Liu Xiaoxiao, Zhang Ye, Zhou Chuan-Xiang
Peking University School and Hospital of Stomatology, Beijing, People's Republic of China.
Int J Surg Pathol. 2019 Dec;27(8):836-843. doi: 10.1177/1066896919855774. Epub 2019 Jun 17.
Langerhans cell histiocytosis (LCH) is characterized by clonal proliferation of Langerhans cells and has been classified as a hematolymphoid tumor. mutation was found to be frequent in LCH; however, it has also been reported that Asia patients with LCH tend to show a lower rate of mutation. In this study, we found LCH from the head and neck region often involved bone especially the posterior of the mandible and presented a high prevalence of mutation in Chinese patients. Our findings also showed immunohistochemical detection correlated very well to DNA sequencing of BRAF alterations, which may be useful in the diagnosis of LCH, especially in cases with a low proportion of Langerhans cells, and BRAF inhibitors might be a treatment option for patients with LCH harboring mutation.
朗格汉斯细胞组织细胞增多症(LCH)以朗格汉斯细胞的克隆性增殖为特征,已被归类为血液淋巴系统肿瘤。研究发现该突变在LCH中很常见;然而,也有报道称亚洲LCH患者的该突变率往往较低。在本研究中,我们发现头颈部区域的LCH常累及骨骼,尤其是下颌骨后部,并且在中国患者中该突变的发生率很高。我们的研究结果还表明,免疫组化检测与BRAF改变的DNA测序结果高度相关,这可能有助于LCH的诊断,特别是在朗格汉斯细胞比例较低的病例中,并且BRAF抑制剂可能是携带该突变的LCH患者的一种治疗选择。