Langerhans细胞组织细胞增生症（LCH）治疗的进展导致幸存者人数不断增加。目前缺乏关于成人LCH长期结果的数据。我们对219名年龄≥18岁的成人进行了回顾性研究。最常见的表现形式是多系统（34.2％），其次是单系统肺部（32％），单焦点（28.3％）和单系统多灶性（5.5％）LCH。 8.7％的病例存在风险器官受累（肝脏、脾脏或骨髓），其中40/88（40.2％）的测试病例为BRAFV600E阳性。在中位随访时间为74个月时，5年无进展生存率（PFS）为58.3％，预计中位PFS为83个月。中位总生存期（OS）尚未达到，5年和10年的OS分别为88.7％和74.5％。风险器官受累与较差的PFS（HR 4.5）和OS（HR 10.8）相关。BRAFV600E与风险器官受累或生存率无关。与未受影响的美国人群进行比较时，LCH患者的总体死亡风险显著增加（标准化死亡率比[SMR] 2.66），特别是在诊断时<55岁的患者（SMR 5.94），以及多系统疾病（SMR 4.12）。第二类癌症发生在16.4％的病例中，包括多种血液和实质性器官恶性肿瘤。LCH相关死亡占死亡数的36.1％，发生在诊断后的5年内。5年后，非LCH死亡原因占主导地位，包括第二类癌症、慢性阻塞性肺疾病和心血管疾病。我们的研究首次突出显示成人LCH患者从非LCH原因导致早期和晚期死亡，强调了制定目标导向的幸存者计划以改善结果的需要。版权所有© 2023美国血液学会。

Advances in the treatment of Langerhans cell histiocytosis (LCH) have resulted in a growing survivor population. There is a lack of data on long-term outcomes among adults with LCH. We conducted a retrospective review of 219 adults (age ≥ 18y) with LCH. Most common presentation was multisystem (34.2%), followed by single system pulmonary (32%), unifocal (28.3%), and single-system multifocal (5.5%) LCH. Risk organ involvement (liver, spleen, or bone marrow) was seen in 8.7% cases, and 40/88 (40.2%) tested cases were BRAFV600E. At median follow-up of 74mo, 5-year progression free survival (PFS) was 58.3% and estimated median PFS was 83mo. Median overall survival (OS) was not reached; 5- and 10-year OS were 88.7% and 74.5%, respectively. Risk organ involvement was associated with worse PFS (HR 4.5) and OS (HR 10.8). BRAFV600E was not associated with risk organ involvement or survival. When compared with matched unaffected US population, individuals with LCH had a significantly higher risk of overall mortality (standardized mortality ratio [SMR] 2.66), specifically among <55y at diagnosis (SMR 5.94) and multisystem disease (SMR 4.12). Second cancers occurred in 16.4% cases, including diverse hematologic and solid organ malignancies. LCH-associated deaths constituted 36.1% of deaths and occurred within 5y of diagnosis. After 5y, non-LCH causes of death predominated, including second cancers, chronic obstructive pulmonary disease, and cardiovascular diseases. Our study highlights for the first time that adults with LCH experience early and late mortality from non-LCH causes and highlights the need for development of targeted survivorship programs to improve outcomes.Copyright © 2023 American Society of Hematology.