{"title":"Prognostic Features of Pediatric Primary Hemophagocytic Lymphohistiocytosis With CNS Involvement.","authors":"Chenzi Zhao, Qing Zhang, Haoyue Jia, Sitong Chen, Liping Zhang, Rui Zhang, Zhigang Li","doi":"10.1097/MPH.0000000000003071","DOIUrl":null,"url":null,"abstract":"<p><p>In this study, we analyzed genetic variation and prognostic factors in pediatric primary hemophagocytic lymphohistiocytosis (pHLH) with central nervous system (CNS) involvement, based on data from patients treated at Beijing Children's Hospital between September 2017 and September 2022. A total of 67 pHLH patients were included, with a median age of 4.3 years. Our findings revealed distinct genetic mutation distributions between CNS-pHLH and pHLH without CNS involvement; specifically, CNS-pHLH patients had significantly fewer XIAP mutations but more PRF1 mutations (P=0.006 and 0.002, respectively). In addition, the 3-year overall survival (OS) rate for CNS-pHLH patients was markedly lower compared with those without CNS involvement (50.2%±18.42% vs. 93.3%±9.02%, P<0.001). Hematopoietic stem cell transplantation (HSCT) was strongly associated with better prognosis in CNS-pHLH patients, yielding a 3-year OS of 82.0%±23.91% in transplanted patients, significantly higher than the 28.6%±19.40% in nontransplanted patients (P<0.001). Furthermore, a Cox regression analysis identified PRF1 mutation, cerebrospinal fluid (CSF) soluble CD25 levels above 280 pg/mL, and elevated ferritin levels as independent risk factors for poor 3-year event-free survival (EFS) in CNS-pHLH (P<0.05). These findings suggest that pHLH patients with PRF1 mutations should undergo regular CNS monitoring to prevent disease progression, and that HSCT may improve long-term prognosis in CNS-pHLH cases.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9000,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Hematology/Oncology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MPH.0000000000003071","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
In this study, we analyzed genetic variation and prognostic factors in pediatric primary hemophagocytic lymphohistiocytosis (pHLH) with central nervous system (CNS) involvement, based on data from patients treated at Beijing Children's Hospital between September 2017 and September 2022. A total of 67 pHLH patients were included, with a median age of 4.3 years. Our findings revealed distinct genetic mutation distributions between CNS-pHLH and pHLH without CNS involvement; specifically, CNS-pHLH patients had significantly fewer XIAP mutations but more PRF1 mutations (P=0.006 and 0.002, respectively). In addition, the 3-year overall survival (OS) rate for CNS-pHLH patients was markedly lower compared with those without CNS involvement (50.2%±18.42% vs. 93.3%±9.02%, P<0.001). Hematopoietic stem cell transplantation (HSCT) was strongly associated with better prognosis in CNS-pHLH patients, yielding a 3-year OS of 82.0%±23.91% in transplanted patients, significantly higher than the 28.6%±19.40% in nontransplanted patients (P<0.001). Furthermore, a Cox regression analysis identified PRF1 mutation, cerebrospinal fluid (CSF) soluble CD25 levels above 280 pg/mL, and elevated ferritin levels as independent risk factors for poor 3-year event-free survival (EFS) in CNS-pHLH (P<0.05). These findings suggest that pHLH patients with PRF1 mutations should undergo regular CNS monitoring to prevent disease progression, and that HSCT may improve long-term prognosis in CNS-pHLH cases.
在这项研究中,我们基于2017年9月至2022年9月在北京儿童医院治疗的儿童原发性噬血细胞淋巴组织细胞增多症(pHLH)并中枢神经系统(CNS)受损伤的遗传变异和预后因素进行了分析。共纳入67例pHLH患者,中位年龄为4.3岁。我们的研究结果显示,CNS-pHLH和不涉及CNS的pHLH之间存在明显的基因突变分布;其中,CNS-pHLH患者XIAP突变显著减少,PRF1突变显著增加(P值分别为0.006和0.002)。此外,CNS- phlh患者的3年总生存率(OS)明显低于未受累CNS患者(50.2%±18.42% vs. 93.3%±9.02%,P
期刊介绍:
Journal of Pediatric Hematology/Oncology (JPHO) reports on major advances in the diagnosis and treatment of cancer and blood diseases in children. The journal publishes original research, commentaries, historical insights, and clinical and laboratory observations.