中国循证儿科杂志2025，Vol.20Issue(4)：248-253,6.DOI:10.3969/j.issn.1673-5501.2025.04.002
儿童INI1基因缺失性肿瘤的临床特征及预后分析——单中心10年回顾性研究
Clinical and prognostic characteristics of INI1-deficient tumor in children:A single center 10-year retrospective study
摘要
Abstract
Background Prognosis for INI1-deficient tumors is often poor,refractory and relapsing progressive disease is common.Understanding the role of INI1 gene in pediatric tumors is essential to improve the treatment and prognosis.Objective To retrospectively analyze the clinical characteristics and to assess the high risk factors for its prognosis in children with INI1-defi-cient tumors,in order to provide reference for the clinical assessment and management of these patients.Design Retrospective co-hort study.Methods A case series report.Basic information,admission conditions,clinical manifestations,as well as follow-up data of children diagnosed with INI1-deficient tumors at Beijing Children's Hospital from January 2012 to December 2022 were ret-rospectively collected and analyzed.Descriptive statistics were used to summarize the clinical features and Kaplan-Meier method for survival in this cohort.Main outcome measures 3-year and 5-year overall survival(OS)and eventfree survival(EFS)rates.Results A total of 40 children with INI1-deficient tumors were included in the study,including 21 males and 19 females,and the median age was 32.5 years.Including 9 malignant rhabdoid tumors of the kidney,17 extrarenal rhabdoid tumors,5 atypical tera-toid/rhabdoid tumor,4 epithelioid sarcoma,3 epithelioid malignant peripheral nerve sheath tumor,1 myoepithelial carcinoma of soft tissue and 1 small cell carcinoma of the ovary-hypercalcemic type.Thirteen patients(32.5％)had metastases at diagnosis.Among the 40 patients,21 patients died,including 6 patients with MRTK,9 patients with EERT,5 patients with AT/RT and 1 pa-tients with SCCOHT.The overall survival rates of 1 year and 3 years for the entire cohort were 53.8％±8.0％and 43.6％±8.6％re-spectively.After survival analysis,it was clear that malignant rhabdoid tumor,lung metastasis and Ki 67>60％had relatively poor outcomes.Lung metastasis was an independent risk factor for the prognosis of INI1-deficient tumor.INI1-deficient tumor is a highly aggressive tumor in children especially with lung metastasis.Conclusion INI1-deficient tumors in children are malignant tumors with high mortality and poor prognosis.Pulmonary metastasis is an independent risk factor for them.The Ki-67 positive area>60％in immunohistochemistry is closely related to poor prognosis.关键词
INI1基因/儿童/肿瘤Key words
INI1 gene/Children/Tumor引用本文复制引用
张诗晗,马晓莉,苏雁,王希思,张大伟,秦静,杨佩仪,王焕民,葛明,伏利兵,于彤..儿童INI1基因缺失性肿瘤的临床特征及预后分析——单中心10年回顾性研究[J].中国循证儿科杂志,2025,20(4):248-253,6.基金项目
"北京研究型病房卓越计划"项目:BRWEP2024W102090108,国家重点研发计划资助:2023YFC2706100/2023YFC2706101 （）
