A comprehensive molecular characterization of a claudin-low luminal B breast tumor.
Sara GiovanniniArtem SmirnovLivia ConcettiManuel ScimecaAlessandro MaurielloJulia BischofValentina RovellaGerry MelinoClaudio Oreste BuonomoEleonora CandiFrancesca BernassolaPublished in: Biology direct (2024)
Breast cancer is the most common cause of death from cancer in women. Here, we present the case of a 43-year-old woman, who received a diagnosis of claudin-low luminal B breast cancer. The lesion revealed to be a poorly differentiated high-grade infiltrating ductal carcinoma, which was strongly estrogen receptor (ER)/progesterone receptor (PR) positive and human epidermal growth factor receptor (HER2) negative. Her tumor underwent in-depth chromosomal, mutational and gene expression analyses. We found a pathogenic protein truncating mutation in the TP53 gene, which is predicted to disrupt its transcriptional activity. The patient also harbors germline mutations in some mismatch repair (MMR) genes, and her tumor displays the presence of immune infiltrates, high tumor mutational burden (TMB) status and the apolipoprotein B mRNA editing enzyme catalytic polypeptide 3 (APOBEC3) associated signatures, which, overall, are predictive for the use of immunotherapy. Here, we propose promising prognostic indicators as well as potential therapeutic strategies based on the molecular characterization of the tumor.
Keyphrases
- estrogen receptor
- gene expression
- epidermal growth factor receptor
- high grade
- endothelial cells
- genome wide
- type diabetes
- crispr cas
- pregnant women
- squamous cell carcinoma
- tyrosine kinase
- copy number
- adipose tissue
- single cell
- young adults
- transcription factor
- insulin resistance
- case report
- optical coherence tomography
- binding protein
- dna damage
- polycystic ovary syndrome
- protein protein
- breast cancer cells
- small molecule
- endoplasmic reticulum
- induced pluripotent stem cells