XPO1基因突变的慢性淋巴细胞白血病临床特征及预后研究
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1.南京医科大学第一附属医院,江苏省人民医院血液科;2.南京医科大学第一附属医院,江苏省人民医院

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国家自然科学基金;江苏省重点研发计划社会发展项目;南京医科大学第一附属医院青年基金培育计划;国家自然科学基金青年基金;江苏省基础研究计划(自然科学基金)--青年基金项目


Clinical characteristics of Chronic lymphocytic leukemia with XPO1 mutations
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    摘要:

    目的:探讨携带核输出蛋白1(XPO1)基因突变的慢性淋巴细胞白血病(CLL)患者的临床特征,为临床诊治提供线索。方法:回顾性分析2017年3月至2022年3月就诊于南京医科大学第一附属医院(江苏省人民医院)血液科,且检测出XPO1基因突变的CLL患者临床资料,比较初诊未治(TN)和复发/难治(R/R)XPO1突变患者的临床数据、治疗反应及生存结局。结果:在543例CLL患者中,15例(2.8%)患者XPO1基因突变检测阳性, TN、R/R患者的突变率分别为2.5%(9例)及3.4%(6例),存在热点突变(E571K)。患者疾病分期多为Rai III/IV期,Binet B/C组,且免疫球蛋白重链可变区基因(IGHV)无突变。XPO1基因突变与NOTCH1、SF3B1、KMT2D、TP53等基因可同时出现,且与疾病状态无关,而TP53与XPO1基因突变同时发生多见于R/R组(TN:11.1%;R/R:50%)。XPO1突变患者中位至首次治疗时间(TTFT)为5.2(0~87.4)个月,中位无进展生存期(PFS)为30.3(22.4-45.9)个月,中位总生存时间(OS)为102.4(4.3~152.5)个月;XPO1无突变组患者中位首次治疗时间(TTFT)为8.1(0 ~162.3)个月,中位无进展生存期(PFS)为32.5(2~152.1)个月,中位总生存时间(OS)为49.8(0.4~284.4)个月。结论:XPO1突变在CLL/SLL中为低频突变且常伴随其他基因突变同时发生。R/R患者携带XPO1突变多于TN患者,且肿瘤负荷更高。XPO1突变组患者的TTFT、PFS较XPO1无突变组患者趋向于更短。

    Abstract:

    Objective: The purpose of this study is to investigate the clinical and biological characteristics of chronic lymphocytic leukemia (CLL) patients with exportin 1 (XPO1) gene mutations, and to provide clues for clinical diagnosis and treatment. Methods: The clinical data of CLL patients with XPO1 mutations detected in the Department of Hematology of Jiangsu Province Hospital (The First Affiliated Hospital of Nanjing Medical University) from March 2017 to March 2022 were retrospectively analyzed. The clinical data, treatment response and survival outcomes of the treatment native (TN) and relapsed/refractory (R/R) patients with XPO1 mutation were compared. Results: 15 patients(2.8%) with XPO1 mutations were included in the total population of 543 CLL patients, 9 in the TN group and 6 in the R/R group. And the hot spot mutation was E571K. Most of the patients were Rai III-IV stage, Binet B-C group, and unmutated IGHV status. XPO1 mutation could co-occur with NOTCH1 mutation,SF3B1 mutation,and ATM mutation,regardless of disease state. While TP53 and XPO1 mutations co-occurrence tend to be observed in the R/R group (TN: 11.1%; R/R: 50%). The median time to first treatment (TTFT) for patients with XPO1 mutations was 5.2 (0-87.4) months, the median progression-free survival (PFS) was 30.3 (22.4-45.9) months, and the median overall survival (OS) was 102.4 (4.3-152.5) months. In the XPO1 wild-type group, median TFS, PFS and OS were 8.1 (0-162.3) months, 32.5 (2-152.1) months, and 49.8 (0.4-284.4) months, respectively. Conclusion: Our data suggest a lower incidence of XPO1 mutations in CLL. It seems to co-occur frequently with other gene mutations. Relapsed/refractory patients have more XPO1 mutations and higher tumor burden than treatment native patients . TTFT and PFS of CLL patients with XPO1 mutations tend to be shorter than those of XPO1 wild-type cases.

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  • 收稿日期:2023-10-11
  • 最后修改日期:2024-01-03
  • 录用日期:2024-02-26
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