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As a result a higher dose of Gleevec is generally recommended for patients with advanced/metastatic disease. GISTs with exon 9 mutations have a lower response rate and a shorter response to standard dose Gleevec therapy when compared to exon 11 mutations. In fact, about 2/3 of the cases that occur in the small bowel or colon are KIT exon 11 mutations and about 25% have exon 9 mutations. In patients that have an exon 9 mutation, it occurs in the small bowel or colon about 98% of the time however, they do NOT make up the majority of cases that occur in the small bowel or colon. Exon 9 mutations are found in about 10-12% of cases. Mutations in exon 11 generally respond to treatment with Gleevec better than mutations in other exons.Įxon 9 – Exon 9 mutations are the second most common mutation. Exon 11 mutations are found in about 60-65% of cases. Mutations in the following exons of the c-kit gene are known to occur in GIST.Įxon 11 – This is the most commonly mutated exon in GIST. Mutations in different exons in the gene cause changes in shape in different parts of the KIT receptor. Exons contain coding information and introns do not. The information in genes is divided into different sections called exons and introns.
THE VISITOR RETURNS 2011 MUTATION DRIVER
In GIST, the most common genes with mutations known or believed to be the driver mutations in GIST are: KIT – ~75-80% Most of today’s cancer therapies are designed to address the results of gene mutations. GIST was one of the first and most powerful examples in the cancer world that the mutated gene(s) driving the cancer is more important than the location of the tumor. If enough critical errors occur, the cell may stop following the rules that normal cells live by and the beginning stages of cancer can occur. Sometimes however, errors (mutations) can be passed on to the new cell and each new generation of cells. Usually, these errors are corrected, or the cell is destroyed so that the errors are not passed on to new cells. Sometimes errors in copying the DNA occur during the cell division process. New cells are created when existing cells divide. These instructions are contained in the DNA and are organized into genes one gene for each protein, about 30,000 genes in all. The cells in the human body each contain instructions for making the building blocks that make up the body. International Partnerships and Collaborations.