RTKmutasjoner

RTK mutations refer to alterations in the genes that encode receptor tyrosine kinases (RTKs). RTKs are a large family of transmembrane proteins that play critical roles in cell signaling pathways involved in growth, proliferation, differentiation, and survival. They are activated by extracellular ligands, such as growth factors, and initiate intracellular signaling cascades that ultimately affect cellular behavior.

Mutations in RTK genes can lead to their abnormal activation or function. These mutations can occur in various ways, including point mutations, deletions, insertions, or gene amplifications. Often, these mutations result in a constitutively active receptor, meaning it signals even in the absence of its ligand. This uncontrolled signaling can drive excessive cell growth and division, a hallmark of cancer.

Specific RTK mutations are implicated in a wide range of cancers. For example, mutations in the epidermal growth factor receptor (EGFR) gene are common in non-small cell lung cancer, while mutations in the HER2 receptor are found in some breast and gastric cancers. Other frequently mutated RTKs include VEGFR, PDGFR, and ALK.

The identification of RTK mutations has significant implications for cancer diagnosis and treatment. Many targeted therapies have been developed to specifically inhibit the activity of mutated RTKs. These drugs can be highly effective in patients whose tumors harbor specific RTK alterations, leading to improved treatment outcomes. Genetic testing to identify these mutations is therefore an important part of personalized cancer medicine.