南京医科大学学报（自然科学版）2024，Vol.44Issue(3)：342-351,10.DOI:10.7655/NYDXBNSN230934
XPO1基因突变的慢性淋巴细胞白血病临床特征及预后研究
Clinical characteristics and prognostic study of chronic lymphocytic leukemia with XPO1 mutation
摘要
Abstract
Objective:To investigate the clinical characteristics of patients with chronic lymphocytic leukemia(CLL)carrying exportin 1(XPO1)mutations,providing clues for clinical diagnosis and treatment.Methods:The clinical data of CLL patients with XPO1 mutations detected in the Department of Hematology of the First Affiliated Hospital of Nanjing Medical University from November 2006 and March 2022 were retrospectively analyzed.The clinical data,treatment responses,and survival outcomes of the treatment native(TN)and relapsed/refractory(R/R)patients with XPO1 mutation were compared.Results:Among 543 CLL patients,15 patients(2.8％)tested positive with XPO1 mutations.The mutation rates in the TN group(368 cases)and R/R group(175 cases)were 2.4％(9 cases)and 3.4％(6 cases),respectively,with a hotspot mutation(E57 1K)identified.Most of the patients were in Rai Ⅲ/Ⅳ stage and Binet B/C group,and had no mutations in the immunoglobulin heavy-chain variable region(IGHV).XPO1 gene mutation co-occurred with NOTCH 1,SF3B1,KMT2D,TP53,and other gene mutations,with TP53 and XPO1 mutations more common in the R/R group(TN:11.1％;R/R:50％).The median time to first treatment(TTFT)for patients with XPO1 mutations was 1.8 months,the median progression-free survival(PFS)was 19.8 months,and the median overall survival(OS)was 40.0 months.In the XPO1 non-mutated patients,TTFT was 8.1 months,PFS was 32.5 months,and OS was 49.8 months.Conclusion:XPO1 mutations in CLL are low-frequency mutations often occurring simultaneously with other gene mutations.R/R patients are more likely to carry XPO1 mutations than TN patients,with a higher tumor burden.XPO1 mutated patients tend to have shorter TTFT and PFS,compared with those without XPO1 mutations.关键词
慢性淋巴细胞白血病/XPO1突变/二代测序/临床特征/预后Key words
chronic lymphocytic leukemia/XPO 1 mutation/next generation sequencing/clinical characteristics/prognosis分类
医药卫生引用本文复制引用
韩宜霏,王莉,李建勇,徐卫,许张娣,吴佳竹,孔祎琳,潘必慧,李悦,梁金花,申浩睿,尹华..XPO1基因突变的慢性淋巴细胞白血病临床特征及预后研究[J].南京医科大学学报（自然科学版）,2024,44(3):342-351,10.基金项目
国家自然科学基金(81700193) （81700193）
江苏省重点研发计划社会发展项目(BE2017751) （BE2017751）
南京医科大学第一附属医院青年基金培育计划(PY2021026) （PY2021026）
国家自然科学基金青年基金(82200210) （82200210）
江苏省基础研究计划(自然科学基金)——青年基金项目(BK20210961) （自然科学基金）
