Department of Hematology and Oncology, National Center for Children's Health, Beijing Key Laboratory of Pediatric Hematology Oncology, Key Laboratory of Major Diseases in Children, Ministry of Education, National Key Discipline of Pediatrics, Beijing Children's Hospital Affiliated to Capital Medical University, Nanlishi Road No. 56, Xicheng District, Beijing, 100045, People's Republic of China.
Department of Hematology, Children's Hospital of Zhengzhou City, Zhengzhou, 450053, China.
Ann Hematol. 2020 Oct;99(10):2255-2263. doi: 10.1007/s00277-020-04209-w. Epub 2020 Aug 6.
We aimed to clarify the clinical characteristics, prognostic factors, and effectiveness of the HLH-94/2004 regimens and hematopoietic stem cell transplantation (HSCT) in pediatric patients with primary hemophagocytic lymphohistiocytosis (pHLH) in China. A retrospective analysis was performed on 38 patients with pHLH at Beijing Children's Hospital. PRF1 (34.2%) and UNC13D (31.6%) were the most common mutations in the pHLH. Thirty-eight patients were treated with the HLH-94/2004 regimens after diagnosis. Twenty-six patients (72.2%) responded to first-line treatment (complete response: 55.5%, partial response: 16.7%). The median survival time was 23 months. The overall survival (OS) rate at 3 years was 74.7%. There was no significant difference in the response rate (72% vs. 63.6%, P = 0.703) or 3-year OS (83.6% vs. 66.7%, P = 0.443) between the patients treated with the HLH-94 regimen and those treated with the HLH-2004 regimen. The incidences of all side effects in patients treated with the HLH-94 or HLH-2004 regimen were 32.0% and 18.2%, respectively (P = 0.394). Among 15 patients treated with HSCT, neither the preconditioning regimen nor the donor type affected patient prognosis (P = 0.205 and P = 0.161, respectively). The disease status (remission or nonremission) before preconditioning did not affect prognosis or the incidence of GVHD. Furthermore, a higher bilirubin level (≥ 30 μmol/L) was correlated with a poorer prognosis in pHLH patients (P = 0.026). The effectiveness rates of the HLH-94 and HLH-2004 regimens, chemotherapy, and HSCT were similar in pHLH patients. A bilirubin level ≥ 30 μmol/L might be an adverse prognostic factor in pHLH.
本研究旨在阐明中国儿童原发性噬血细胞性淋巴组织细胞增多症（pHLH）患者的临床特征、预后因素以及 HLH-94/2004 方案和造血干细胞移植（HSCT）的疗效。我们对北京儿童医院的 38 例 pHLH 患者进行了回顾性分析。pHLH 中最常见的突变是 PRF1（34.2%）和 UNC13D（31.6%）。诊断后，38 例患者接受 HLH-94/2004 方案治疗。26 例（72.2%）患者对一线治疗有反应（完全缓解：55.5%，部分缓解：16.7%）。中位生存时间为 23 个月。3 年总生存率（OS）为 74.7%。接受 HLH-94 方案和 HLH-2004 方案治疗的患者的反应率（72% vs. 63.6%，P = 0.703）或 3 年 OS（83.6% vs. 66.7%，P = 0.443）无显著差异。接受 HLH-94 或 HLH-2004 方案治疗的患者的所有副作用发生率分别为 32.0%和 18.2%（P = 0.394）。在接受 HSCT 治疗的 15 例患者中，预处理方案和供者类型均不影响患者预后（P = 0.205 和 P = 0.161）。预处理前的疾病状态（缓解或未缓解）不影响预后或移植物抗宿主病的发生率。此外，胆红素水平较高（≥ 30 μmol/L）与 pHLH 患者预后较差相关（P = 0.026）。HLH-94 和 HLH-2004 方案、化疗和 HSCT 治疗在 pHLH 患者中的疗效相似。胆红素水平≥ 30 μmol/L 可能是 pHLH 的不良预后因素。
