Department of Hematology and Oncology, Institute of Medical Science Research Hospital, University of Tokyo, Tokyo, Japan.
Department of Hematology, Tokyo Metropolitan Bokutoh Hospital, Tokyo, Japan.
Cancer Sci. 2023 Sep;114(9):3687-3697. doi: 10.1111/cas.15879. Epub 2023 Jun 26.
Langerhans cell histiocytosis (LCH) is a rare disease characterized by clonal expansion of CD1a CD207 myeloid dendritic cells. The features of LCH are mainly described in children and remain poorly defined in adults; therefore, we conducted a nationwide survey to collect clinical data from 148 adult patients with LCH. The median age at diagnosis was 46.5 (range: 20-87) years with male predominance (60.8%). Among the 86 patients with detailed treatment information, 40 (46.5%) had single system LCH, whereas 46 (53.5%) had multisystem LCH. Moreover, 19 patients (22.1%) had an additional malignancy. BRAF V600E in plasma cell-free DNA was associated with a low overall survival (OS) rate and the risk of the pituitary gland and central nervous system involvement. At a median follow-up of 55 months from diagnosis, six patients (7.0%) had died, and the four patients with LCH-related death did not respond to initial chemotherapy. The OS probability at 5 years post-diagnosis was 90.6% (95% confidence interval: 79.8-95.8). Multivariate analysis showed that patients aged ≥60 years at diagnosis had a relatively poor prognosis. The probability of event-free survival at 5 years was 52.1% (95% confidence interval: 36.6-65.5), with 57 patients requiring chemotherapy. In this study, we first revealed the high rate of relapse after chemotherapy and mortality of poor responders in adults as well as children. Therefore, prospective therapeutic studies of adults with LCH using targeted therapies are needed to improve outcomes in adults with LCH.
朗格汉斯细胞组织细胞增生症（LCH）是一种罕见的疾病，其特征是 CD1a+CD207+髓系树突状细胞的克隆性扩张。LCH 的特征主要在儿童中描述，在成人中仍定义不明确；因此，我们进行了一项全国性调查，从 148 例成人 LCH 患者中收集临床数据。诊断时的中位年龄为 46.5（范围：20-87）岁，男性居多（60.8%）。在有详细治疗信息的 86 例患者中，40 例（46.5%）为单一系统 LCH，46 例（53.5%）为多系统 LCH。此外，19 例（22.1%）患者有额外的恶性肿瘤。血浆无细胞 DNA 中的 BRAF V600E 与总体生存率（OS）较低以及垂体和中枢神经系统受累的风险相关。在诊断后中位随访 55 个月时，有 6 例（7.0%）患者死亡，4 例与 LCH 相关的死亡患者对初始化疗无反应。诊断后 5 年 OS 概率为 90.6%（95%置信区间：79.8-95.8）。多变量分析显示，诊断时年龄≥60 岁的患者预后较差。诊断后 5 年无事件生存概率为 52.1%（95%置信区间：36.6-65.5），其中 57 例患者需要化疗。在这项研究中，我们首次揭示了成人和儿童中化疗后复发率高和无反应者死亡率高的情况。因此，需要针对成人 LCH 使用靶向治疗进行前瞻性治疗研究，以改善成人 LCH 的预后。
