What is KIT in GIST?
As a key oncogenic driver expressed in the majority of GISTs, KIT is a key therapeutic target. KIT mutational status holds predictive value for GIST sensitivity to targeted treatments and routine genotyping has become an integral part of management of GISTs undergoing tyrosine kinase inhibitor therapy.
How does imatinib work in GIST?
This drug targets both the KIT and PDGFRA proteins, blocking their ability to help tumor cells grow and divide. In most GISTs, the cells have too much of one of these proteins. Most GISTs shrink when treated with imatinib. Some other tumors at least stop growing for a time.
What is exon 11 mutation?
Mutations in the following exons of the c-kit gene are known to occur in GIST. Exon 11 – This is the most commonly mutated exon in GIST. Exon 11 mutations are found in about 60-65% of cases. Mutations in exon 11 generally respond to treatment with Gleevec better than mutations in other exons.
What are the symptoms of GIST?
Other symptoms of GISTs can include:
- Abdominal (belly) pain.
- A mass or swelling in the abdomen.
- Nausea and vomiting.
- Feeling full after eating only a small amount of food.
- Loss of appetite.
- Weight loss.
- Problems swallowing (for tumors in the esophagus)
What is a KIT mutation?
Mutations in the KIT gene are the most common genetic changes associated with gastrointestinal stromal tumors (GISTs). GISTs are a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine.
What is KIT and PDGFRA?
KIT and PDGFRA are both receptor tyrosine kinases and have a very similar structure (see Figure 8). The PDGFRA gene is also very similar to the KIT gene, and PDGFRA mutations have been found in exons 12, 14 and 18 (corresponding to exons 11, 13 and 17 of KIT).
How long can I take imatinib?
Optimal duration of therapy is unknown but generally imatinib should be continued for 6–9 months, after which additional tumor shrinkage is usually minor.
What is exon 13 mutation?
KIT Exon 13 Mutation is a predictive biomarker for use of imatinib in patients. Of the therapies with KIT Exon 13 Mutation as a predictive biomarker, 1 has NCCN guidelines in at least one clinical setting.
Are exons genes?
An exon is the portion of a gene that codes for amino acids. In the cells of plants and animals, most gene sequences are broken up by one or more DNA sequences called introns.