Identification and Functional Verification of Drug-Resistant Gene Mutations Associated with Breast Cancer Brain Metastasis Based on Cerebrospinal Fluid and Blood Samples
YANG Mei, TAN Yue, LI Gang, et al
Department of Oncology, Minhang District Cancer Hospital, Shanghai 200240
Abstract：【Objective】This study aims to investigate the gene mutation profile in cerebrospinal fluid (CSF)/blood-derived samples from patients with brain metastases of breast cancer for screening drug-resistant genes to verify their resistance mechanisms. 【Methods】A total of 70 patients with brain metastases from breast cancer treated in our hospital were selected for the study. Second-generation sequencing technology was used to detect circulating tumor DNA (ctDNA) in CSF and blood samples to understand the gene mutation status, and to screen drug resistance and analyze the association with mutant genes. 【Results】The main gene mutations detected in the 70 patients included TP53, HER2, PIK3CA, BRCA1, and BRCA2. The mutation detection rate in CSF-derived samples was 100% (70/70), which was higher than 65.71% (46/70) in blood-derived samples (P<0.05). Compared to 21 samples without HER2 and PIK3CA mutations (considering as the control group), patients with HER2 mutations showed higher resistance to trastuzumab (P<0.05). Patients with PIK3CA mutations did not show statistically significant differences in resistance to trastuzumab, atezolizumab, paclitaxel, and doxorubicin, if compared to the control group (P<0.05). Similarly, the resistance of HER2 mutation patients to atezolizumab, paclitaxel, and doxorubicin was not significantly different from that of the control group (P<0.05). 【Conclusion】CSF in patients with breast cancer brain metastases can more accurately reflect possible brain metastasis status in comparison to the blood. The detection of HER2 mutations suggests the presence of corresponding drug resistance, which is of significant importance for medication guidance and monitoring of drug resistance.
杨梅, 谭越, 李纲, 李雪莲. 基于脑脊液和血液样本的乳腺癌脑转移相关耐药基因突变的鉴定及功能分析*[J]. 医学临床研究, 2024, 41(2): 171-173.
YANG Mei, TAN Yue, LI Gang, et al. Identification and Functional Verification of Drug-Resistant Gene Mutations Associated with Breast Cancer Brain Metastasis Based on Cerebrospinal Fluid and Blood Samples. JOURNAL OF CLINICAL RESEARCH, 2024, 41(2): 171-173.
2024, Vol. 41 
