TUBB1突变型骨髓增生异常综合症患者临床特征及血小板输注无效相关性分析

doi:10.3969/j.issn.1671-2587.2024.05.018

临床输血与检验 ›› 2024, Vol. 26 ›› Issue (5): 683-689.DOI: 10.3969/j.issn.1671-2587.2024.05.018

TUBB1突变型骨髓增生异常综合症患者临床特征及血小板输注无效相关性分析

赵嘉璐¹, 范鑫秋², 曾一梅², 蔡晓红², 李佳明^1,2, 王学锋^1,2

¹上海交通大学医学院附属瑞金医院检验科;
²上海交通大学医学院附属瑞金医院临床输血科,上海 200025

收稿日期:2024-07-03 出版日期:2024-10-20 发布日期:2024-09-20
通讯作者: 王学锋,主要从事出血病及血栓病诊治相关研究,（E-mail）xfwang63@shsmu.edu.cn。李佳明,主要从事临床输血治疗相关研究,（E-mail）lijiaming007007@126.com。
作者简介:赵嘉璐,主要从事临床检验诊断学,（E-mail）zjl5367@163.com。

Clinical Characteristics and Correlation Analysis of Platelet Transfusion Refractoriness in Patients with TUBB1 Mutant Myelodysplastic Syndrome

ZHAO Jialu¹, FAN Xinqiu², ZENG Yimei², CAI Xiaohong², LI Jiaming², WANG Xuefeng^1,2

¹Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine Department of Clinical Laboratory;
²Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine Department of Blood Transfusion, Shanghai 200025

Received:2024-07-03 Online:2024-10-20 Published:2024-09-20

摘要/Abstract

摘要： 目的探究骨髓增生异常综合征（MDS）合并TUBB1突变患者的临床特点,及TUBB1突变与血小板输注治疗无效的相关性。方法回顾性研究。系统收集2018年2月—2023年10月在上海交通大学医学院附属瑞金医院诊断为MDS并接受化学药物治疗的81例患者的临床资料,观察血常规、基因突变、CD34、血小板输注无效（PTR: Platelet transfusion refractoriness）发生率等。生存曲线采用Kaplan-Meier法绘制,PTR危险因素分析采用Logistic回归分析,森林图采用R studio绘制。结果 81例MDS患者中,TUBB1突变型组10例,野生型组71例。与TUBB1野生型患者相比,TUBB1突变型患者CD34⁺MKs比例更高[33.50（14.25,55.88）% vs. 4.00（2.00,10.00）%,P<0.001]、血小板计数减少伴体积增大[36.00（18.75,186.50）×10⁹/L vs. 91.00（67.00,164.00）×10⁹/L, P<0.05;（12.03±1.92）fL vs.（9.19±0.97）fL,P<0.001]。TUBB1突变型组发生血小板输注治疗无效8例（80.00%）,野生型组发生血小板输注治疗无效18例（25.35%）,比较两组差异有统计学意义（P<0.05）。Logistic回归分析结果显示,TUBB1突变是血小板输注治疗无效的独立危险因素（P<0.05,OR=7.28）。结论 TUBB1基因突变的MDS患者普遍表现为CD34⁺MKs比例增加和巨大血小板减少征。且TUBB1突变为MDS患者化疗后骨髓抑制期血小板输注治疗无效的独立危险因素。

关键词: TUBB1, 骨髓增生异常综合征, 巨大血小板, CD34⁺MKs, 血小板输注无效

Abstract: Objective To investigate the clinical characteristics of patients with myelodysplastic syndrome (MDS) complicated with TUBB1 mutations, and the correlation between TUBB1 mutations and platelet transfusion refractoriness. Methods Retrospective research was done. Systematically collect clinical data of 81 patients diagnosed with MDS and treated with chemotherapy at Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine from February 2018 to October 2023. Observe the incidence of blood routine, gene mutations, CD34 and platelet transfusion rejection (PTR). The survival curve was plotted using the Kaplan Meier, the PTR risk factor analysis was performed using logistic regression analysis, and the forest map was plotted using R studio. Results Among 81 MDS patients, there were 10 cases in the TUBB1 mutation group and 71 cases in the TUBB1 wild-type group. Compared with TUBB1 wild-type group patients, TUBB1 mutation group patients have a higher proportion of CD34⁺MKs [33.50 (14.25, 55.88)% vs. 4.00 (2.00, 10.00)%, P<0.001], decreased platelet count with increased volume [36.00 (18.75, 186.50)×10⁹/L vs. 91.00 (67.00, 164.00)×10⁹/L, P<0.05; (12.03±1.92) fL vs. (9.19±0.97) fL, P<0.001]. There were 8 cases (80.00%) of PTR in the TUBB1 mutation group, and 18 cases (25.35%) of PTR in the TUBB1 wild-type group. The difference between the two groups was statistically significant (P<0.05).The results of logistic regression analysis showed that TUBB1 mutation was an independent risk factor for ineffective platelet transfusion therapy (P<0.05, OR=7.28). Conclusion MDS patients with TUBB1 mutations generally exhibit an increase in the proportion of CD34⁺MKs, an increase in platelet volumeand and a decrease in platelet count.TUBB1 mutation is an independent risk factor for PTR during the bone marrow suppression phase after chemotherapy in MDS patients.

Key words: TUBB1 Myelodysplastic syndrome, Giant platelets, CD34⁺MKs, Platelet transfusion rejection (PTR)

中图分类号:

R457

赵嘉璐, 范鑫秋, 曾一梅, 蔡晓红, 李佳明, 王学锋. TUBB1突变型骨髓增生异常综合症患者临床特征及血小板输注无效相关性分析[J]. 临床输血与检验, 2024, 26(5): 683-689.

ZHAO Jialu, FAN Xinqiu, ZENG Yimei, CAI Xiaohong, LI Jiaming, WANG Xuefeng. Clinical Characteristics and Correlation Analysis of Platelet Transfusion Refractoriness in Patients with TUBB1 Mutant Myelodysplastic Syndrome[J]. JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE, 2024, 26(5): 683-689.

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TUBB1突变型骨髓增生异常综合症患者临床特征及血小板输注无效相关性分析

Clinical Characteristics and Correlation Analysis of Platelet Transfusion Refractoriness in Patients with TUBB1 Mutant Myelodysplastic Syndrome

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