De la determinismul genetic la abordarea clinică – rolul imunohistochimiei în clasificarea carcinoamelor mamare

Abstract

Breast cancer is a complex disease that can be caused by a combination of genetic and environmental factors. Se­ve­ral genes have been identified to be associated with an in­creased risk of breast cancer, including BRCA1, BRCA2, TP53, PTEN and others. These genes can be tested for mutations in order to assess an individual’s risk of deve­lo­ping breast can­cer. Im­mu­nohistochemistry (IHC) plays a significant role in per­so­na­lized breast cancer treatment by providing in­for­ma­tion on the specific proteins and bio­mar­kers present in a patient’s tumor. This information can help guide treat­ment decisions and improve outcomes. Im­mu­no­his­to­che­mis­try is used to determine the expression le­vels of se­ve­ral proteins, including estrogen receptor (ER), pro­ges­te­rone receptor (PR) and human epidermal growth factor re­cep­tor 2 (HER2). ER and PR are hormone receptors that are com­monly expressed in breast cancer cells. Their expression le­vels are important for determining treatment options, as hormone therapy can be effective in patients whose tu­mors express these receptors. HER2, on the other hand, is a growth factor receptor which is overexpressed in some breast cancers. HER2-positive tu­mors can be treated with tar­ge­ted therapy drugs such as tras­tu­zu­mab. In addition to ER, PR and HER2, IHC can also be used to assess the ex­pres­sion of other markers in breast cancer, such as Ki-67, a marker of cellular proliferation, and cytokeratins, which are intermediate filaments found in epithelial cells. This in­for­ma­tion can help determine the aggressiveness of the tu­mor and the likelihood of response to certain treatments. Over­all, the identification of breast cancer genes and the use of immunohistochemistry to assess protein expression le­vels are important tools for the diagnosis and treatment of breast cancer.