Particular molecular and ultrastructural aspects in invasive mammary carcinoma

Electron microscopic investigations of invasive mammary carcinoma tumors revealed that intercellular junctions, namely desmosomes are severely altered; some desmosomes became internalized. Tumor cells, especially by their invadopodia, generate and disseminate membrane vesicles, including exosomes, inside of peritumoral stroma. Telocytes, a new described interstitial/stromal cell phenotype, considered to play important roles in cell signaling, exhibited a reduced number of hetero-cellular contacts, which suggests a possible perturbation of tissular homeostasis modulation. Signaling PIK3/Akt pathway plays an important role both in carcinogenesis and in proliferation, differentiation, and cell survival. Alteration of this pathway has been observed in many human cancers, often involving an increase in the activity of PIK3CA, p110α catalytic subunit of PI3K. Our study confirms the high prevalence of PIK3CA mutations in breast cancer. In accordance with the results of the largest previous studies, 87.5% of mutations detected by DNA direct sequencing were hot spot mutations, most of them located in the kinase domain. High percentage of mutations detected by high-resolution melting makes the assay an attractive choice for mutation scanning, especially, in samples with low percentage of tumor cell.