Risks, Causes, and Symptoms: A Comprehensive Guide
Gastrointestinal stromal tumors (GIST), a type of cancer that develops from cells in the gastrointestinal tract, have been a focus of medical research due to their complex nature.
A key factor in the development of GISTs appears to be a mutation in the expression of the KIT protein. This protein plays a crucial role in cell growth and division, and its mutation can lead to uncontrolled cell growth, resulting in the formation of GISTs.
Genetic mutations can also lead to GISTs. For instance, Neurofibromatosis 1, familial gastrointestinal stromal tumor syndrome, and mutations in the succinate dehydrogenase (SDH) genes are known to contribute to the development of these tumors. People with familial gastrointestinal stromal tumor syndrome, in particular, have an increased risk of GISTs that can form at a younger age than in the general population.
People with Neurofibromatosis 1 are also at an increased risk to develop benign tumors in nerves at an early age and to develop a GIST. Similarly, people born with mutations in the SDHB and SDHC genes are at an increased risk for developing GISTs and also have an increased risk for developing a type of nerve tumor called a paraganglioma.
In terms of treatment, surgical removal of GISTs is an option if the tumor hasn't spread. Modern surgical techniques, such as laparoscopy, may be used for incisions and removal of tissues during surgery.
Watchful waiting may be employed when there's no change in symptoms or signs. However, for advanced cases, targeted therapy with drugs such as tyrosine kinase inhibitors (TKIs) may be prescribed. These drugs, including imatinib, sunitinib, and regorafenib, specifically inhibit mutated KIT or PDGFRA receptors common in GISTs. These treatments have significantly improved patient outcomes and are standard and widely used for advanced or metastatic GISTs.
In 2020, two new treatments were approved for specific types of GISTs. Qinlock was approved as a fourth-line treatment for advanced GIST, while Ayvakit was approved for treating GIST with a PDGFRA exon 18 mutation, including D842V mutations.
Supportive care may also be provided to improve quality of life for GIST patients with side effects or advanced GIST. This care can include managing symptoms, providing emotional support, and helping patients navigate the healthcare system.
The most common age to develop a GIST is between 50 and 80 years old. However, due to the increased risk in certain genetic conditions, GISTs can form at a younger age. It's important for people with these conditions to be aware of the signs and symptoms of GISTs and to discuss their risks with their healthcare providers.
GISTs start in the GI tract and can grow outward into nearby structures or organs. They frequently spread to the liver and peritoneum but rarely to nearby lymph nodes. Ongoing research and clinical trials are exploring new treatment options and strategies to further improve outcomes for GIST patients.
