Gene expression profiling for the diagnosis of male breast cancer

Male breast cancer (MBC) is a rare malignancy, but its global incidence has shown a notable increase in recent decades. Factors such as limited health literacy, inadequate health education, and reluctance to seek medical attention contribute to the late-stage diagnosis of most MBC patients. Consequently, there is an urgent need for a highly specific and sensitive diagnostic approach to MBC.

This retrospective study enrolled 20 patients with 30 surgical or biopsy MBC specimens from August 2020 to August 2023. The 90-gene expression assay was performed to determine the tissue of origin. Predicted tumor types were then compared to the reference diagnosis for accuracy calculation. The differentially expressed genes were identified between male and female breast cancer.

The 90-gene expression assay demonstrated an overall accuracy of 96.7% (29/30) when compared with the pathological diagnosis. For primary, lymph node metastatic, and distant metastatic tumors, the accuracies were 100% (15/15), 90.9% (10/11), and 100% (4/4), respectively. Five genes (RPS4Y1, PI15, AZGP1, PRRX1, and AGR2) were up-regulated, and six (XIST, PIGR, SFRP1, PLA2G2A, S100A2, and CHI3L1) were down-regulated in MBC.

Our findings highlight the promising performance of the 90-gene expression assay in accurately identifying the tumor origin in MBC. Incorporating this assay into pathological diagnoses has the potential to empower oncologists with precision treatment options, ultimately enhancing the care and outcomes for patients with MBC.