Integrated multi-omics profiling reveals a clinically relevant molecular feature and potential therapeutic target on phyllodes tumors of breast

• DOI: 10.1016/j.tranon.2024.101998
• Publication Date: 2024-05-17T20:34:41Z
• Authors: Wei Xu; Wei Ma; Depeng Wang; Xingchen Zhou; Kangyu Wang; Kun Mu
• Keywords: Profiling (computer programming); Omics; Feature (linguistics)

Phyllodes tumors (PTs) has an increased risk of local relapse and distant metastases. Molecular features correlating to histologic grade aggressive behavior PTs are poorly characterized. Here, whole exome sequencing (WES) was performed explore genetic mutations in 61 samples fibroepithelial breast tumors, including 16 fibroadenomas (FAs), 18 benign PTs, 19 borderline 8 malignant PTs. Our work clearly shows that FA, PT, PT independent entities at the genomic level. They may exist as hidden sub-clones carrying specific alterations. Malignant PT-specific present a multi-gene co-mutational pattern suggesting synergistic effect co-mutated genes processes associated with behavior. Moreover, we made combined transcriptomic analysis, which presented mutated gene-based interaction expression profiles. We found EGFR (c.710C > T, c.758A G, c.1295A c.2156G C) serve hub network suggests tyrosine kinase inhibitors (EGFRi) might be effective for TP53 (c.730G c.844C c.1019delA) serves event molecular changes Thus, our study based on omics platforms genome transcriptome provides better understanding process potential targeted therapy is pivotal improving molecular-guided patient selection designing clinically relevant combination strategies.