TMB: Definition, Uses, and Clinical Overview

TMB stands for **tumor mutational burden**. It is a measurement of how many DNA changes (mutations) are found in a tumor’s genetic material. TMB is commonly reported from **next-generation sequencing (NGS)** tests on tumor tissue or sometimes blood. Clinicians may use TMB as one piece of information when considering **immunotherapy** and clinical trial options.

Tumor mutational burden: Definition, Uses, and Clinical Overview

Tumor mutational burden is a measure of how many genetic changes (mutations) are found in a cancer’s DNA. It is reported as the number of mutations per amount of DNA tested, using standardized lab methods. It is most commonly used in molecular pathology to help interpret biomarker testing results. It can support treatment planning, especially when immunotherapy is being considered.

Mismatch repair deficiency: Definition, Uses, and Clinical Overview

Mismatch repair deficiency is a tumor feature in which a cell’s DNA “spell-check” system does not work properly. It can lead to a build-up of DNA errors as cells divide. In oncology, it is commonly used as a biomarker to help classify cancers and guide treatment choices. It is most often identified through laboratory testing on tumor tissue.

MSI: Definition, Uses, and Clinical Overview

MSI stands for **microsatellite instability**, a tumor biomarker measured in cancer tissue (and sometimes compared with normal tissue). It describes a pattern of DNA changes that can happen when a cell’s **DNA mismatch repair** system is not working well. MSI testing is commonly used in oncology to help guide **diagnosis, hereditary risk evaluation, and treatment selection**, especially for immunotherapy. It is most often discussed in cancers such as colorectal and endometrial cancer, but it can be relevant across multiple tumor types.

Microsatellite instability: Definition, Uses, and Clinical Overview

Microsatellite instability is a tumor DNA pattern that can appear when a cell’s DNA repair system is not working normally. It describes changes in short, repeated DNA sequences called microsatellites. It is commonly used in cancer testing to help classify tumors and guide treatment planning. It can also be used to raise or lower suspicion for an inherited cancer syndrome in some settings.

Rearrangement: Definition, Uses, and Clinical Overview

Rearrangement is a change in how DNA is organized inside a cell. In cancer care, Rearrangement usually refers to a structural DNA change that can create an abnormal “fusion” gene or alter gene control. It is most commonly discussed in molecular pathology reports and genetic testing results. Clinicians use Rearrangement findings to help classify cancers and, in some cases, guide treatment selection.

Deletion: Definition, Uses, and Clinical Overview

Deletion is a type of genetic change where a piece of DNA is missing. It can involve part of a gene, an entire gene, or a larger section of a chromosome. In oncology, Deletion is commonly discussed as a tumor (somatic) finding or, less often, an inherited (germline) change. It is usually identified through laboratory testing of blood, bone marrow, or tumor tissue.

Amplification: Definition, Uses, and Clinical Overview

Amplification means there are extra copies of a gene or a DNA region inside cancer cells. It is a type of genetic change that can make certain cancer-driving signals stronger. Amplification is most commonly discussed in tumor biomarker testing and molecular pathology reports. It can help clinicians understand prognosis and whether targeted therapies may be relevant.