Radiogenomic analysis of clinical and ultrasonic characteristics in correlation to immune-related genes in breast cancer

Breast ultrasound plays a significant role in the non-invasive screening and diagnosis of breast cancer. The application of immunotherapy for breast cancer can significantly prolong the overall survival of advanced patients, which is an important research area of breast cancer treatment. The combination of ultrasound and immunotherapy helps patients diagnose and predict survival and develop a personalized treatment plan. This study analyzed the correlation between the clinical and ultrasonic characteristics of breast cancer and immune-related genes. First, the differential expression of immune-related genes was obtained using the GEO and IMMPORT database. Then, differentially expressed immune-related genes related to the overall survival of breast cancer were obtained using the GEPIA and Kaplan-Meier plotter platforms. Additionally, clinical, ultrasonic characteristics and pathological specimens of breast cancer patients' tumors were collected. Whole transcriptome sequencing and immunohistochemical staining were performed on the tumor specimens to obtain gene expression. CXCL2, MIA, NR3C2, PTX3, S100B, SAA1, SAA2, and CXCL9 genes were correlated with each other and with clinical and ultrasonic characteristics. The high expression of MIA was related to the positive expression of PR in breast cancer. The low expression of NR3C2 was correlated with the clinical characteristics of tumor size ≥ 20 mm, later stage, Her-2 positive, Ki-67 ≥ 20%. NR3C2 was negatively correlated with the value of PKI and AUC in contrast-enhanced ultrasound parameters, and positively correlated with the value of AT and TTP. The expression of the PTX3 gene was also negatively correlated with the value of PKI and Emax of shear wave elastography. SAA2 was related to the presence or absence of edge burrs characterized by ultrasound. The expression of the CXCL9 gene was associated with the age of onset and tumor stage. In this study, 8 differentially expressed immune-related genes related to the overall survival of breast cancer were screened, which had been proved to be associated with some characteristics of cancer in previous studies, and could be further studied in the subsequent immunotherapy of breast cancer. Some clinical and ultrasonic characteristics of breast cancer were significantly correlated with immune-related genes, such as NR3C2, SAA2, and CXCL9. Further analysis of these genes provides new ideas for the diagnosis and treatment of breast cancer.