Tumörmutationantal

Tumörmutationantal, also known as tumor mutational burden, is a measure of the number of mutations found in cancer cells. It is typically calculated by sequencing the whole genome of a tumor and counting the number of mutations that occur in protein-coding genes. The mutations are typically missense mutations, which result in an amino acid change in the protein.

High tumor mutational burden (TMB) is often associated with improved response to immunotherapy, a type of cancer treatment that uses the body's immune system to fight cancer. This is because high TMB can lead to the production of many neoantigens, which are protein fragments that are recognized as foreign by the immune system. When the immune system identifies these neoantigens, it can mount a targeted attack against cancer cells that display them on their surface.

Studies have shown that patients with high TMB are more likely to respond to checkpoint inhibitors, such as pembrolizumab and nivolumab, which are drugs that block certain proteins on the surface of immune cells to prevent them from interacting with tumor cells. However, not all cancers with high TMB respond to immunotherapy, and the relationship between TMB and response to treatment is complex and still not fully understood.

Tumor mutational burden is being explored as a biomarker to identify patients who are likely to benefit from immunotherapy. It may also be used to monitor the response of patients to treatment and to identify potential mechanisms of resistance to therapy. Further research is needed to fully elucidate the relationship between TMB and response to immunotherapy.