华氏巨球蛋白血症患者不同样本类型中MYD88 L265P突变检出率差异比较  

Comparison of detection rates of MYD88 L265P mutation in different sample types of Waldenstrom macroglobulinemia patients

作　　者：朱宁 张丽丽 李玉侠 李岱阳 胡晓庄 郑仲征 ZHU Ning;ZHANG Lili;LI Yuxia;LI Daiyang;HU Xiaozhuang;ZHENG Zhongzheng(Shanghai Tissuebank Biotechnology Co.,Ltd,Shanghai 200000,China)

机构地区：[1]上海荻硕贝肯生物科技有限公司,上海200000

出　　处：《检验医学与临床》2024年第S02期86-90,共5页Laboratory Medicine and Clinic

摘　　要：目的探讨华氏巨球蛋白血症(WM)患者不同样本类型的MYD88基因L265P突变检出率差异及意义。方法回顾性分析2018年4月至2022年3月送检该机构的WM患者行MYD88 L265P突变的数字PCR检测数据,结合患者同时间送检的不同样本类型中的数据进行分析。结果共收集得到符合要求的170例WM患者的208株有效样本。整体MYD88 L265P阳性率为43.53%。骨髓样本MYD88 L265P突变阳性率显著高于外周血(53.85%vs.36.54%,P=0.037)和血浆cfDNA(53.85%vs.23.08%,36.54%vs.23.08%,P<0.005),且骨髓类型样本的比例高于外周血(25.00%)和血浆cfDNA(6.25%)。结论样本类型差异在一定程度上影响WM患者的MYD88 L265P突变检测结果判读,骨髓中的MYD88 L265P检出率与疾病发生率之间强相关。WM患者治疗期间可考虑结合送检外周血监测突变以辅助分析疾病状态,需进一步扩大样本量加以证实。Objective To investigate the differences in the detection rate and significance of L265P mutation in the MYD88 gene among different sample types in patients with Waldenstrom macroglobulinemia(WM).Methods A retrospective analysis was conducted on the digital PCR detection data of the L265P mutation in the MYD88 gene of WM patients who were sent to our institution for testing from April 2018 to March 2022,combined with mutation detection data from different sample types sent by patients at the same time for analysis.Results A total of 208 valid samples were collected from 170 WM patients who met the requirements.The overall positive rate of MYD88 L265P was 43.53%.The positive rate of MYD88 L265P mutation in bone marrow samples was significantly higher than that in peripheral blood(53.85%vs.36.54%,P=0.037)and plasma cfDNA(53.85%vs.23.08%,36.54%vs.23.08%,P<0.005)samples,and the proportion of bone marrow type samples was also higher than that in peripheral blood(25.00%)and plasma cfDNA(6.25%)samples.Conclusion Differences in sample types to some extent affect the interpretation of MYD88 L265P mutation detection results in WM patients,and there is a strong correlation between the MYD88 L265P mutation detection in bone marrow and disease incidence.During the treatment period of WM patients,it is possible to consider combining peripheral blood samples for auxiliary analysis of disease status,and further expanding the sample size is necessary to confirm.

关 键 词：数字PCR 华氏巨球蛋白血症 骨髓 外周血 血浆细胞游离DNA 

分 类 号：R446[医药卫生—诊断学]