Table of ContentsView AllTable of ContentsTypesSymptomsCausesDiagnosisTreatmentPrognosisCoping
Table of ContentsView All
View All
Table of Contents
Types
Symptoms
Causes
Diagnosis
Treatment
Prognosis
Coping
Gastrointestinal stromal tumors (GIST) are a type of soft tissue sarcoma. While they are the most common type of digestive tract sarcoma, they account for only 0.2% of digestive tract cancers overall. They may be found anywhere in the digestive tract but are most common in the stomach and small intestine where they can cause bleeding, anemia, and sometimes severe pain when obstruction or perforation occur.
The diagnosis can be challenging, but is most often made with an endoscopic ultrasound. Treatment options (and subsequently survival) have advanced tremendously in recent years, and understanding of the genetic profile of these tumors is important in selecting the best approach.
Jose Luis Pelaez / The Image Bank / Getty Images
Types of GIST
GIST was only recognized as a distinct form oftumora few decades ago, but advances in the genetic analysis of this tumor has led to progress in its treatment that can be considered a prototype ofprecision medicine(treating cancers individually based on their genetic make-up rather than with a one-size-fits-all approach).
Tissue Type/Classification
Gastrointestinal stromal tumors are classified as sarcomas, cancers that arise in connective tissues such as bone, cartilage, blood vessels, and nerve tissue. These tumors are often treated quite differently than the more common carcinomas, cancers that arise from tissues that line body cavities (such as the skin, lung, breast ducts, etc.)
It’s currently believed that GISTs arise from cells called interstitial cells of Cajal (ICCs). These cells are part of the autonomic nervous system and are responsible for peristalsis (the waves of contractions that move food forward) in the digestive tract.
A GIST is most commonly diagnosed in adults between the ages of 40 and 70, but may be found in children. At one time it was thought that some GIST were benign (not cancerous) and some malignant (cancerous), but now it’s thought that all GIST have the potential to spread (the hallmark of cancer). That said, most very small GISTs that begin in the stomach behave like benign tumors.
Locations
Gastrointestinal stromal tumors may be found anywhere in the digestive tract, but are more common in some regions than others:
Behavior
When GIST progress, they often advance locally and are less likely to spread (metastasize) to lymph nodes or distant sites compared with other cancers. When they do spread, the most common sites are the lungs and bones. The aggressiveness of these tumors can vary significantly, with up to 25% of stomach GISTs and up to 50% of small intestine GISTs being considered aggressive.
GIST Symptoms
The signs and symptoms of gastrointestinal stromal tumors are variable and non-specific and depend on where in the digestive tract the tumor begins.
Gastrointestinal Symptoms
In many cases, a GIST is discovered incidentally (accidentally) when an evaluation is done for another reason.
When present, possible symptoms may include:
Complications
In some cases, thefirstsigns and symptoms of a GIST may be related to complications of the tumor. These may include:
Non-Gastrointestinal Symptoms
Non-digestive tract symptoms may be present in people who have familial GIST (GIST that runs in families or is associated with a genetic syndrome). People with familial GIST may also have more extensive symptoms, as multiple tumors are often present (people without a family history usually have a solitary tumor).
Additional symptoms may include dark patches on the skin, or raised, itchy, painful patches of brown skin.
IncidenceThe exact incidence of GIST is unknown, as it’s thought that many of these tumors are misdiagnosed as other types of cancer. It’s thought that roughly 5,000 cases are diagnosed in the United States each year. That said, small GIST are more common and often found incidentally when a workup is done for another reason. When autopsies have been done on adults who died from causes unrelated to GIST, small (less than 1 centimeter in diameter) GISTs have been found in over 20% of people.
Incidence
The exact incidence of GIST is unknown, as it’s thought that many of these tumors are misdiagnosed as other types of cancer. It’s thought that roughly 5,000 cases are diagnosed in the United States each year. That said, small GIST are more common and often found incidentally when a workup is done for another reason. When autopsies have been done on adults who died from causes unrelated to GIST, small (less than 1 centimeter in diameter) GISTs have been found in over 20% of people.
Cancer most often begins when a series of mutations in two types of genes, oncogenes and/or suppressor genes, leads to the uncontrolled growth of a cell.
Tumor suppressor genesare genes that code for proteins that repair damaged cells or eliminate cells that can’t repaired (so they can’t go on and become a cancer). BRCA genes are examples of tumor suppressor genes.
Proto-oncogenes are genes that code for proteins that control the growth, division, and survival of cells, and are most active in a developing fetus. When mutated in adults (so that they continue to be in the “on” position), they are referred to asoncogenes. Two oncogenes, KIT and PDGFRA are responsible for roughly 85% of GISTs.Not all KIT or PDGFRA mutations are the same, and this is discussed below.
Tumor suppressor genes may also be affected in some people with GIST.
Risk Factors
GISTs are somewhat unique in that there are currently no known environmental or lifestyle risk factors for the disease. The disease is linked to age (being most common in middle age to older adults), but is similar among men and women and in different races.
Gene Mutations and GIST
Most of the gene mutations responsible for the growth of GISTs are acquired or somatic mutations. These are in contrast to hereditary or germline mutations that are associated with hereditary cancers. With somatic gene mutations, the mutation develops sometime after birth in the process of a cell becoming acancer cell.
When a cancer is related to a hereditary mutation, it is referred to as ahereditary cancer. In contrast, when a cancer is due to an acquired gene mutation, it is considered asporadic cancer. KIT and PDGFRA gene mutations are associated with both hereditary and sporadic GISTs.
Hereditary vs. Acquired Gene Mutations in Cancer
Genetic Syndromes and GIST
A number of different genetic syndromes are associated with GIST. These include:
The diagnosis of GIST begins with having a high index of suspicion as these tumors are often diagnosed as something else, and can be difficult to differentiate from benign tumors on tests such as endoscopy. They may be found incidentally or after investigating the symptoms they can cause.
Gastrointestinal stromal tumors vary widely in size from less than 1 centimeter (cm) (0.5 inches) to more than 40 cm. The average size at the time of diagnosis is 5 cm (roughly 2.5 inches) in diameter.
History and Physical
A careful history is important and includes a review of symptoms as well as a family history of GIST. Physical exam should look for abdominal tenderness, changes in weight, and signs associated with hereditary GIST such as cafe au lait spots.
Blood Tests
In addition to tests to identify the tumor, a complete blood count is done to look for evidence of anemia, as well as liver function tests as these tumors can sometimes spread to the liver.
Imaging Tests
Imaging tests are often done initially. This can include computed tomography (CT), magnetic resonance imaging (MRI), or positron emission tomography (PET), though CT is thought to be the best for identifying GIST.
The disadvantage of imaging tests is that a biopsy is not usually performed. With GIST, CT directed needle biopsy (percutaneous needle biopsy) is usually avoided due to both the risk of bleeding (these tumors bleed easily) and the risk of seeding the tumor (causing the spread of the tumor through traces of tumors that are left along the needle tract used to withdraw a biopsy sample).
A PET scan may, however, be helpful in staging.
Procedures
Endoscopy, eitherEGD(esophagogastroduodenoscopy)or colonoscopy, uses a scope inserted either through the mouth or rectum to directly access a GIST. Since gastrointestinal stromal tumors usually grow under the surface layer of the intestine (mucosal layer),endoscopic ultrasound(using an ultrasound attached to the front of the scope) is often the best test for identifying these tumors. From the ultrasound, a guided fine needle biopsy can be done to determine how deep the tumor extends and to obtain a biopsy if needed.
Since part of the intestine (small intestine) can be difficult to see, there are a few options in addition to conventional endoscopy.
Capsule endoscopyis a procedure in which a capsule containing a small camera is swallowed. The camera can take pictures as it travels through the small intestine (a process that usually takes roughly eight hours) and transmits the images to an external device a person wears on their body like a belt. The camera passes normally with a bowel movement and does not need to be retrieved. A disadvantage of capsule endoscopy is that a biopsy cannot be done with the procedure.
Biopsy
A biopsy may be done either through the skin, via an endoscopic ultrasound, or with a surgical biopsy (at the time of surgery to remove a tumor). With any of these procedures the risk of bleeding must be considered as GISTs are usually very friable (break apart very easily).
A biopsy is not always needed if surgery will be performed, as in this setting a biopsy can be done later. With inoperable tumors, however, a biopsy can be very important, as testing to determine the specific mutations present can help guide treatment.
A biopsy sample is used to note the characteristics of a tumor under the microscope, evaluate the mitotic rate, and perform histochemistry analysis and genetic testing.
Themitotic rateis important in determining the aggressiveness of a GIST and is described as being greater or less than five mitotic cells per high power field. Mitotic cells are cells that are noted to be in the active stage of cell division.
Molecular/Genetic Analysis
In addition to checking the mitotic rate, techniques including immunohistochemistry, immunostaining, and genetic profiling may be done. In order to understand these tests, it’s helpful to look at what mutations may be present, as this helps healthcare providers determine the best treatment for an individual tumor.
It’s currently recommended that everyone with a GIST be tested for KIT and PDGFRA mutations. If negative, testing for BRAF, SDH, and NF1 should be undertaken.
GIST Mutations
The most common mutations found in GIST are KIT and PDGFRA mutations:
KITmutations are present in around 80% of GISTs.Mutations, however, may occur in different regions of the gene, and how tumors respond to treatment can vary depending on whether the location is, for example, in exon 11 (most common), exon 9, exon 13/14, exon 17/8, etc.
PDGFRAmutations are found in roughly 10% of these tumors (and involve exon 12 or 18).Most of these mutations respond in a similar way to treatment with the exception of D842V.
Tumors that do not harbor a KIT or PDGFRA mutation are sometimes referred to as “KIT-PDGFRA wild-type tumors” and account for roughly 10% to 15% of these tumors (but a higher percentage in children and young adults). These tumors may also harbor gene mutations that may guide treatment. Examples include:
Immunohistochemistry
CD117 isn’t specific for GIST, and may be positive with some other types of sarcoma. Other immunostaining techniques are helpful in some cases.
Genetic Profiling
Genomic testingsuch as next-generation sequencing can reveal further details about KIT and PDGFRA mutations, and is helpful as tumors with mutations at different places in these genes can affect how a person will respond to treatment.
Molecular profiling is also helpful in identifying less common mutations, which is important as these tumors do not often respond to the most common treatments for GIST. In one study, mutations were found in 82% of tumors that tested negative for KIT and PDGFRA.
Differential Diagnosis
A number of conditions need to be distinguished from a GIST, and can lead to similar symptoms. These include:
Staging
Unlike many cancers that are staged from stage 1 to stage 4 in order to determine the best treatment options, GISTs are described primarily based on clinical features. These include:
GISTs are more likely to spread if they are larger (greater than 2 cm or roughly 1 inch in diameter), if they are located somewhere other than the stomach or omentum, and/or if they have a high mitotic index.
When staging to define treatment options, GISTs are broken down into two categories:
A separate staging approach divides GISTs into two categories based on the location of the tumor.
Staging tests may include CT, MRI, PET, chest X-ray, or bone scan depending on the characteristics of the tumor.
Chemotherapy isnotthought to be effective for GIST, and radiation therapy is primarily reserved for complications or metastases in some cases. Here is how different stages are usually addressed:
Surgery
Surgery may be used in three different settings with GISTs:
Surgery for GISTs differs somewhat from other cancer surgery procedures. Since these tumors do not spread far within the muscle, major surgeries (such as removing the whole stomach) are not usually needed. Surgery is designed to remove the tumors such that no cancer cells are present on the edges of the tissue to be removed (negative margins if possible). Even if some tumor is present on the margins, re-surgery is not usually done.
Surgery can be done via either minimally invasive surgery (such as a laparoscopy) or via an open procedure (eg. a laparotomy). Laparoscopy is preferred, especially in older patients, and can often be used with tumors that are 5 cm in diameter and smaller.
Removal of lymph nodes is also not usually needed, as most of these tumors do not tend to spread to lymph nodes (an exception is GIST with SDH mutations in which enlarged nodes should be removed).
It’s very important to have a surgeon who is experienced in GIST surgeries. The surgeon needs to be careful not to disrupt the outer lining around the tumor (pseudocapsule) due to the risk of bleeding and also because it could promote the spreading of the tumor.
Surgery Plus Adjuvant Targeted Therapy
With surgery, targeted therapy may be used either before surgery or after surgery.
Adjuvant therapyrefers to the use of targeted therapyaftersurgery to reduce the risk of recurrence. It’s now recommended that people with tumors that have a high risk of recurrence (based on tumor size, location, etc.) be treated with targeted therapy for at least 3 years following the surgery, though there is some thought that this might be continued longer, especially for people who have tumors with KIT exon 11 mutations.
Neoadjuvant therapyrefers to the use of targeted therapy (Gleevec)beforesurgery to reduce the size of a tumor. This can sometimes result in a much less invasive surgery. Other times, a tumor that is previously inoperable may become operable after a period of using targeted therapy. In this setting, the targeted therapy is usually used for around 2 years before surgery is performed.
Radiofrequency ablationis sometimes used as an alternative to surgery when surgery would be too risky for some reason (due to advanced age, etc.).
Targeted Therapy: KIT and PDGFRA
Targeted therapies are medications that target cancer cells or specific pathways involved in the growth of a cancer. Since they are designed to target a cancer specifically, they often (but not always) have fewer side effects than chemotherapy drugs.
Since targeted therapies interfere with a pathway critical to the growth of a tumor, they are often very effective (at least for a period of a year or more). They do not, however, cure a cancer, and these tumors often recur once treatment is stopped.
For people with unresectable or metastatic GIST, targeted therapy is usually the treatment of choice. It is also often recommended as adjuvant or neoadjuvant therapy.
Gleevec (Imatinib)
When Gleevec is first started, people are cautioned to watch for any signs of digestive tract bleeding, as these tumors can sometimes bleed if they shrink rapidly. The most common side effects are rashes, diarrhea, abdominal pain, and muscle aches and pains.
Exceptions: Some GISTs are less likely or unlikely to respond to Gleevec. These include tumors with:
When Gleevec stops working (the average time is two years), there is a choice to either double the dose of the medication or switch to Sutent.
Sutent (Sunitinib)
Sutent is another targeted therapy that is often usedsecond-linefor GIST (other than those noted under exceptions above). Side effects include nausea, diarrhea, mouth sores, and skin changes, as well as the risk of serious bleeding and high blood pressure in some people.
Stirvarga (Regorafenib)
Stivarga is usually recommended third line, when both Gleevec and Sutent stop working. Side effects are similar to Stutent, and Stivarga also carries the uncommon risks of bleeding, intestinal perforation, and blistering of the hands and feet.
Qinlock (Ripretinib)
When the first three medications above stop working, Qinlock is now often recommended fourth line for treatment (or a clinical trial with another medication).
Other Options
For tumors that are not responding to the above medications, other options (some only available in clinical trials) may include:
How Long Should Treatment Continue?
When a tumor is controlled on Gleevec, many people wonder how long the medication should be continued. Unfortunately, if treatment is stopped, even after a complete response, there is a high risk of progression.
Fortunately, and unlike cancer treatment with a number of different targeted therapies, most people who stop and then restart their medication will again respond. For this reason, it’s usually recommended that targeted therapy be continued until a tumor progresses even if any metastatic tumors have been removed.Even if a tumor is progressing, stopping targeted therapies can result in more rapid growth of the tumor as well.
Is Surgery Possible?
In some people with metastatic GIST who respond to Gleevec, treatment with cytoreductive surgery following Gleevec may be an option. In one study, 78% of people who received this surgery had no evidence of disease after surgery, and overall survival was 95%.
Targeted Therapy: Wild-Type Tumors
Tumors with mutations in genes other than KIT and PDGFRA do not usually respond to conventional targeted therapies for GIST. That said, a 2020 study estimates that roughly 20% of tumors that initially test negative for KIT and PDGFRA mutations are actually carriers of KIT mutations and might, therefore, respond to the treatments above for these tumors. The researchers recommend that a second-level molecular analysis (gene profiling) be done on tumors that initially test negative.
SDH Mutations
These tumors tend to occur in younger people, more often in women, and unlike other GISTs, tend to spread early and to lymph nodes. That said, they tend to grow more slowly. Most of these tumors are resistant to Gleevec, and surgery is the mainstay of treatment at the current time.
NF1
BRAF
GISTs that harborBRAF mutationsmay respond to the currently available BRAF inhibitors used for melanoma and other cancers.
NTRK Gene Fusion
Roughly 1% of GISTs may harbor a neutrophil receptor kinase (NTRK) gene fusion. The medication Vitrakvi (larotrectinib) is now approved foranytype of cancer that contains this mutation, and good responses have been seen with some soft tissue sarcomas.Clinical trials are also currently in place studying drugs such as Loxo-195 and TPX-0005.
Recurrence and Progression
Recurrence is far too common with GISTs that are treated with surgery, and these tumors may recur in the digestive tract, or at distant sites such as the liver, abdomen, or peritoneum. With distant recurrence, a tumor is then treated as a metastatic tumor, usually with targeted therapy.
When tumors progress, the next available targeted therapy is often used. With a distant progression (metastasis), sometimes local treatment is used in addition to the targeted therapy.
Treatment of Metastases
Sometimes metastases occur (such as to the liver) in people who are otherwise responding to targeted therapy. When this occurs, local treatment of the metastasis can sometimes result in control of the tumor. Ablation (radiofrequency ablation) or arterial embolization procedures are most often used.
With many types of cancer, a treatment is discontinued when the cancer progresses while on that treatment. With GISTs, however, this is not recommended as stopping a medication may lead to the more rapid growth of the tumor
With advanced GISTs that are progressing on a tyrosine kinase inhibitor, the medication is usually continued as these cancers may progress more rapidly if the treatment is stopped.
Clinical Trials
With many GISTs, aclinical trialmay be a good option. In addition to the targeted therapies discussed above, some of the therapies that are being studied include:
The prognosis of a GIST includes many factors such as the size of the tumor when diagnosed, the mitotic rate, the location of the tumor, whether the tumor has spread, and whether the tumor can be removed with surgery. KIT and PDGFRA positive tumors seem to have a similar prognosis.
SEER data looking at people who were diagnosed between 2009 and 2015 show an overall five-year survival rate of 83%, with a rate of 94% with localized disease, 82% with regional disease, and 52% with distant disease. But new treatments have been adopted since that time.
For those who are diagnosed, this is one type of cancer for which treatments and survival rates have improved significantly in recent years, even with metastatic disease. The 2-year survival rate for people with metastatic GISTs who are treated with Gleevec is now 80% from the time of metastasis.
It is frightening enough to be diagnosed with cancer, but when you learn you have a cancer most people aren’t familiar with, it can be even more frightening. Fortunately, there are now many treatment options available for most of these tumors.
Learn About Your Tumor
The downside of having many treatment options, is that people are being called on to make more decisions with regard to their care. Taking time to research your cancer can not only help you feel more in control of your journey, but in some cases, can even affect outcomes. It’s important to look at recent information, however, as the treatment as well as survival rates for the disease are improving rapidly.
Find a Good Cancer Care Team
For those who have uncommon cancers, it’s very helpful to find a healthcare provider who specializes in that type of cancer. With advances occurring in so many areas of oncology, it’s difficult to stay on top of one type of cancer, not to speak of all types of the disease.
Getting a second opinion at a National Cancer Institute-designated treatment center is one good way to do this, and doesn’t necessarily mean you will need to travel. Many of these centers are now doing remote consults, and can sometimes work with your healthcare provider at home to design a treatment plan.
Support
The importance of support can’t be overstated when you are coping with cancer. This doesn’t mean that you have to broadcast your tumor to everyone you know, but having a core group of people you can talk with, and who are willing to jump in and help, is crucial.
Support from others coping with the same disease can also be priceless, both for social support and to learn more about your tumor. The internet is a great way to connect with others when you are facing an uncommon cancer. As a plus, many of the support groups for uncommon cancers are “deeper” than the large groups for people with common cancers, and it’s not uncommon to form lifelong friendships with some of the people you meet. Some options are:
A Word From Verywell
Gastrointestinal stromal tumors are uncommon, but compared to many uncommon diseases, research has led to great advances in treatment in recent years. Taking the time to learn more about the disease can truly help you feel like you are in the driver’s seat of your journey with cancer, instead of being a passenger headed a direction you never wanted to go in the first place.
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23 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Cancer Institute.Gastrointestinal stromal tumors (adult PDQ) - health professional version.American Cancer Society.If you have a gastrointestinal stromal tumor (GIST).U.S. National Library of Medicine. Genetics Home Reference.Gastrointestinal stromal tumor.Wu CE, Tzen CY, Wang SY, Yeh CN.Clinical diagnosis of gastrointestinal stromal tumor (GIST): From the molecular genetic point of view.Cancers (Basel).11(5):679. doi:10.3390/cancers/11050679American Cancer Society.Gastrointestinal stromal tumors risk factors.Hurley RH, McCormick M, Elhassan M, Nicholson G.Gastrointestinal stromal tumour as a rare association with neurofibromatosis type 1.Journal of Surgical Case Reports.doi:10.1093/jscr/rjy017Judson I, Bulusu,R, Seddon B, et al.UK clinical practice guidelines for the management of gastrointestinal stromal tumours (GIST).Clinical Sarcoma Research.7:6. doi:10.1186/s13569-017-0072-8Parab TM, DeRogatis MJ, Boaz AM, et al.Gastrointestinal stromal tumors: A comprehensive review.Journal of Gastrointestinal Oncology. 2019;10(1):144-154. doi:10.21037/jgo.2018.08.20Chen HW, Chen TWW.Genomic-guided precision therapy for soft tissue sarcoma.ESMO Open. 5(2):e000626. doi:10.1136/esmoopen-2019-000626Nishida T.Therapeutic strategies for wild-type gastrointestinal stromal tumor: is it different fromKITorPDGFRA-mutated GISTs?Translational Gastroenterology and Hepatology.2:92. doi:10.21037/tgh.2017.11.05Boikos SA, Pappo AS, Killian JK, et al.Molecular subtypes ofKIT/PDGFRAwild-type gastrointestinal stromal tumors: A report from the National Institutes of Health Gastrointestinal Stromal Tumor Clinic.JAMA Oncology.2(7):922-928. doi:10.1001/jamaoncol.2016.0256Joensuu H, Wardelmann E, Sihto H, et al.Effect of KIT and PDGFRA nutations on survival in patients with gastrointestinal stromal tumors treated with adjuvant imatinib: An exploratory analysis of a randomized clinical trial.JAMA Oncology. 2017;3(5):602-609. doi:10.1001/jamaoncol.2016.5751Ishikawa T, Kanda T, Kameyama H, Wakai T.Neoadjuvant therapy for gastrointestinal stromal tumor.Translational Gastroenterology and Hepatology.2018. 3:3. doi:10.21037/tgh.2018.01.01Povedaa A, del Murob XG, Lopez-Guerreroc JA, et al.GEIS guidelines for gastrointestinal sarcomas (GIST).Cancer Treatment Reviews.2017;55:107-119. doi:10.1016/j.ctrv.2016.11.011Szucs Z, Thway K, Fisher C, et al.Promising novel therapeutic approaches in the management of gastrointestinal stromal tumors.Future Oncology.2017;13(2):185-194. doi:10.2217/fon-2016-0194Ogata K, Kimura A, Nakazawa N, et al.Long-term imatinib treatment for patients with unresectable or recurrent gastrointestinal stromal tumors.Digestion. 2018;97:20-25. doi:10.1159/000484102Astolfi A, Indio V, Nannini M, et al.Targeted deep sequencing uncovers cryptic KIT mutations in KIT/PDGFRA/SDH/RAS-P wild-type GIST.Frontiers in Oncology. 2020;10:504. doi:10.3389/fonc.2020.00504Ibrahim A, Chopra S.Succinate dehydrogenase-geficient gastrointestinal stromal tumors.Archives of Pathology and Laboratory Medicine.2020;144(5):655-660. doi:10.5858/arpa.2018-0370-RSBurgoyne AM, De Siena M, Alkhuziem M, et al.Duodenal-Jejunal Flexure GI Stromal Tumor Frequently Heralds SomaticNF1and Notch Pathway Mutations.JCO Precision Oncology.doi:10.1200/PO.17.00014Huss S, Pasternack H, Ihle MA, et al.Clinicopathological and Molecular Features of a Large Cohort of Gastrointestinal Stromal Tumors (GISTs) and Review of the Literature: BRAF Mutations in KIT/PDGFRA Wild-Type GISTs Are Rare Events.Human Pathology.2017. 62:206-214. doi:10.1016/j.humpath.2017.01.005Drilon A, Laetsch TW, Kummar S, et al.Efficacy of larotrectinib in TRK fusion–positive cancers in adults and children.New England Journal of Medicine. 2018;378(8):731-739. doiI:10.1056/nejmoa1714448American Cancer Society.Survival rates for GIST tumors.Call JW, Wang Y, Montoya D, et al.Survival in advanced GIST has improved over time and correlates with increased access to post-imatinib tyrosine kinase inhibitors: results from Life Raft Group Registry.Clinical Sarcoma Research.2019;9:4. doi:10.1186/s13569-019-0114-5Additional ReadingAmerican Cancer Society.Targeted drug therapy for gastrointestinal stromal tumors.Casali PG, Abecassis N, Aro HT, et al.Gastrointestinal stromal tumours: ESMO-EURACAN clinical practice guidelines for diagnosis, treatment and follow-up.Annals of Oncology.2018;29(Suppl 4):iv68-iv78. doi:10.1093/annonc/mdy095Jakob J, Hohenberger P.Neoadjuvant therapy to downstage the extent of resection of gastrointestinal stromal tumors.Visceral Medicine. 2018;34(5):359-365. doi:10.1159/000493405Joensuu H, Eriksson M, Hall KS, et al.One vs three tears of adjuvant imatinib for operable gastrointestinal stromal tumor a randomized trial.JAMA.2012;307(12):1265-1272. doi:10.1001/jama.2012.347Joensuu H, Vehtari A, Riihimaki J.Risk of recurrence of gastrointestinal stromal tumour after surgery: an analysis of pooled population-based cohorts.Lancet.13(3):265-274. doi:10.1016/S1470-2045(11)70299-6Kalfusova A, Linke Z, Kalinova M, et al.Gastrointestinal stromal tumors - summary of mutational status of the primary/secondary KIT/PDGFRA mutations, BRAF mutations and SDH defects.Pathology Research and Practice.2019;215(12):152708. doi:10.1016/j.prp.2019.152708Menge F, Jakob J, Kasper B, et al.Clinical presentation of gastrointestinal stromal tumors.Visceral Medicine.2018;34:335-340. doi:10.1159/000494303Nishida T, Blay JY, Hirota S, et al.The standard diagnosis, treatment, and follow-up of gastrointestinal stromal tumors based on guidelines.Gastric Cancer. 2016;19(1):3-14. doi:10.1007/s10120-015-0526-8U.S. National Library of Medicine. Genetics Home Reference.KIT gene.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
National Cancer Institute.Gastrointestinal stromal tumors (adult PDQ) - health professional version.American Cancer Society.If you have a gastrointestinal stromal tumor (GIST).U.S. National Library of Medicine. Genetics Home Reference.Gastrointestinal stromal tumor.Wu CE, Tzen CY, Wang SY, Yeh CN.Clinical diagnosis of gastrointestinal stromal tumor (GIST): From the molecular genetic point of view.Cancers (Basel).11(5):679. doi:10.3390/cancers/11050679American Cancer Society.Gastrointestinal stromal tumors risk factors.Hurley RH, McCormick M, Elhassan M, Nicholson G.Gastrointestinal stromal tumour as a rare association with neurofibromatosis type 1.Journal of Surgical Case Reports.doi:10.1093/jscr/rjy017Judson I, Bulusu,R, Seddon B, et al.UK clinical practice guidelines for the management of gastrointestinal stromal tumours (GIST).Clinical Sarcoma Research.7:6. doi:10.1186/s13569-017-0072-8Parab TM, DeRogatis MJ, Boaz AM, et al.Gastrointestinal stromal tumors: A comprehensive review.Journal of Gastrointestinal Oncology. 2019;10(1):144-154. doi:10.21037/jgo.2018.08.20Chen HW, Chen TWW.Genomic-guided precision therapy for soft tissue sarcoma.ESMO Open. 5(2):e000626. doi:10.1136/esmoopen-2019-000626Nishida T.Therapeutic strategies for wild-type gastrointestinal stromal tumor: is it different fromKITorPDGFRA-mutated GISTs?Translational Gastroenterology and Hepatology.2:92. doi:10.21037/tgh.2017.11.05Boikos SA, Pappo AS, Killian JK, et al.Molecular subtypes ofKIT/PDGFRAwild-type gastrointestinal stromal tumors: A report from the National Institutes of Health Gastrointestinal Stromal Tumor Clinic.JAMA Oncology.2(7):922-928. doi:10.1001/jamaoncol.2016.0256Joensuu H, Wardelmann E, Sihto H, et al.Effect of KIT and PDGFRA nutations on survival in patients with gastrointestinal stromal tumors treated with adjuvant imatinib: An exploratory analysis of a randomized clinical trial.JAMA Oncology. 2017;3(5):602-609. doi:10.1001/jamaoncol.2016.5751Ishikawa T, Kanda T, Kameyama H, Wakai T.Neoadjuvant therapy for gastrointestinal stromal tumor.Translational Gastroenterology and Hepatology.2018. 3:3. doi:10.21037/tgh.2018.01.01Povedaa A, del Murob XG, Lopez-Guerreroc JA, et al.GEIS guidelines for gastrointestinal sarcomas (GIST).Cancer Treatment Reviews.2017;55:107-119. doi:10.1016/j.ctrv.2016.11.011Szucs Z, Thway K, Fisher C, et al.Promising novel therapeutic approaches in the management of gastrointestinal stromal tumors.Future Oncology.2017;13(2):185-194. doi:10.2217/fon-2016-0194Ogata K, Kimura A, Nakazawa N, et al.Long-term imatinib treatment for patients with unresectable or recurrent gastrointestinal stromal tumors.Digestion. 2018;97:20-25. doi:10.1159/000484102Astolfi A, Indio V, Nannini M, et al.Targeted deep sequencing uncovers cryptic KIT mutations in KIT/PDGFRA/SDH/RAS-P wild-type GIST.Frontiers in Oncology. 2020;10:504. doi:10.3389/fonc.2020.00504Ibrahim A, Chopra S.Succinate dehydrogenase-geficient gastrointestinal stromal tumors.Archives of Pathology and Laboratory Medicine.2020;144(5):655-660. doi:10.5858/arpa.2018-0370-RSBurgoyne AM, De Siena M, Alkhuziem M, et al.Duodenal-Jejunal Flexure GI Stromal Tumor Frequently Heralds SomaticNF1and Notch Pathway Mutations.JCO Precision Oncology.doi:10.1200/PO.17.00014Huss S, Pasternack H, Ihle MA, et al.Clinicopathological and Molecular Features of a Large Cohort of Gastrointestinal Stromal Tumors (GISTs) and Review of the Literature: BRAF Mutations in KIT/PDGFRA Wild-Type GISTs Are Rare Events.Human Pathology.2017. 62:206-214. doi:10.1016/j.humpath.2017.01.005Drilon A, Laetsch TW, Kummar S, et al.Efficacy of larotrectinib in TRK fusion–positive cancers in adults and children.New England Journal of Medicine. 2018;378(8):731-739. doiI:10.1056/nejmoa1714448American Cancer Society.Survival rates for GIST tumors.Call JW, Wang Y, Montoya D, et al.Survival in advanced GIST has improved over time and correlates with increased access to post-imatinib tyrosine kinase inhibitors: results from Life Raft Group Registry.Clinical Sarcoma Research.2019;9:4. doi:10.1186/s13569-019-0114-5
National Cancer Institute.Gastrointestinal stromal tumors (adult PDQ) - health professional version.
American Cancer Society.If you have a gastrointestinal stromal tumor (GIST).
U.S. National Library of Medicine. Genetics Home Reference.Gastrointestinal stromal tumor.
Wu CE, Tzen CY, Wang SY, Yeh CN.Clinical diagnosis of gastrointestinal stromal tumor (GIST): From the molecular genetic point of view.Cancers (Basel).11(5):679. doi:10.3390/cancers/11050679
American Cancer Society.Gastrointestinal stromal tumors risk factors.
Hurley RH, McCormick M, Elhassan M, Nicholson G.Gastrointestinal stromal tumour as a rare association with neurofibromatosis type 1.Journal of Surgical Case Reports.doi:10.1093/jscr/rjy017
Judson I, Bulusu,R, Seddon B, et al.UK clinical practice guidelines for the management of gastrointestinal stromal tumours (GIST).Clinical Sarcoma Research.7:6. doi:10.1186/s13569-017-0072-8
Parab TM, DeRogatis MJ, Boaz AM, et al.Gastrointestinal stromal tumors: A comprehensive review.Journal of Gastrointestinal Oncology. 2019;10(1):144-154. doi:10.21037/jgo.2018.08.20
Chen HW, Chen TWW.Genomic-guided precision therapy for soft tissue sarcoma.ESMO Open. 5(2):e000626. doi:10.1136/esmoopen-2019-000626
Nishida T.Therapeutic strategies for wild-type gastrointestinal stromal tumor: is it different fromKITorPDGFRA-mutated GISTs?Translational Gastroenterology and Hepatology.2:92. doi:10.21037/tgh.2017.11.05
Boikos SA, Pappo AS, Killian JK, et al.Molecular subtypes ofKIT/PDGFRAwild-type gastrointestinal stromal tumors: A report from the National Institutes of Health Gastrointestinal Stromal Tumor Clinic.JAMA Oncology.2(7):922-928. doi:10.1001/jamaoncol.2016.0256
Joensuu H, Wardelmann E, Sihto H, et al.Effect of KIT and PDGFRA nutations on survival in patients with gastrointestinal stromal tumors treated with adjuvant imatinib: An exploratory analysis of a randomized clinical trial.JAMA Oncology. 2017;3(5):602-609. doi:10.1001/jamaoncol.2016.5751
Ishikawa T, Kanda T, Kameyama H, Wakai T.Neoadjuvant therapy for gastrointestinal stromal tumor.Translational Gastroenterology and Hepatology.2018. 3:3. doi:10.21037/tgh.2018.01.01
Povedaa A, del Murob XG, Lopez-Guerreroc JA, et al.GEIS guidelines for gastrointestinal sarcomas (GIST).Cancer Treatment Reviews.2017;55:107-119. doi:10.1016/j.ctrv.2016.11.011
Szucs Z, Thway K, Fisher C, et al.Promising novel therapeutic approaches in the management of gastrointestinal stromal tumors.Future Oncology.2017;13(2):185-194. doi:10.2217/fon-2016-0194
Ogata K, Kimura A, Nakazawa N, et al.Long-term imatinib treatment for patients with unresectable or recurrent gastrointestinal stromal tumors.Digestion. 2018;97:20-25. doi:10.1159/000484102
Astolfi A, Indio V, Nannini M, et al.Targeted deep sequencing uncovers cryptic KIT mutations in KIT/PDGFRA/SDH/RAS-P wild-type GIST.Frontiers in Oncology. 2020;10:504. doi:10.3389/fonc.2020.00504
Ibrahim A, Chopra S.Succinate dehydrogenase-geficient gastrointestinal stromal tumors.Archives of Pathology and Laboratory Medicine.2020;144(5):655-660. doi:10.5858/arpa.2018-0370-RS
Burgoyne AM, De Siena M, Alkhuziem M, et al.Duodenal-Jejunal Flexure GI Stromal Tumor Frequently Heralds SomaticNF1and Notch Pathway Mutations.JCO Precision Oncology.doi:10.1200/PO.17.00014
Huss S, Pasternack H, Ihle MA, et al.Clinicopathological and Molecular Features of a Large Cohort of Gastrointestinal Stromal Tumors (GISTs) and Review of the Literature: BRAF Mutations in KIT/PDGFRA Wild-Type GISTs Are Rare Events.Human Pathology.2017. 62:206-214. doi:10.1016/j.humpath.2017.01.005
Drilon A, Laetsch TW, Kummar S, et al.Efficacy of larotrectinib in TRK fusion–positive cancers in adults and children.New England Journal of Medicine. 2018;378(8):731-739. doiI:10.1056/nejmoa1714448
American Cancer Society.Survival rates for GIST tumors.
Call JW, Wang Y, Montoya D, et al.Survival in advanced GIST has improved over time and correlates with increased access to post-imatinib tyrosine kinase inhibitors: results from Life Raft Group Registry.Clinical Sarcoma Research.2019;9:4. doi:10.1186/s13569-019-0114-5
American Cancer Society.Targeted drug therapy for gastrointestinal stromal tumors.Casali PG, Abecassis N, Aro HT, et al.Gastrointestinal stromal tumours: ESMO-EURACAN clinical practice guidelines for diagnosis, treatment and follow-up.Annals of Oncology.2018;29(Suppl 4):iv68-iv78. doi:10.1093/annonc/mdy095Jakob J, Hohenberger P.Neoadjuvant therapy to downstage the extent of resection of gastrointestinal stromal tumors.Visceral Medicine. 2018;34(5):359-365. doi:10.1159/000493405Joensuu H, Eriksson M, Hall KS, et al.One vs three tears of adjuvant imatinib for operable gastrointestinal stromal tumor a randomized trial.JAMA.2012;307(12):1265-1272. doi:10.1001/jama.2012.347Joensuu H, Vehtari A, Riihimaki J.Risk of recurrence of gastrointestinal stromal tumour after surgery: an analysis of pooled population-based cohorts.Lancet.13(3):265-274. doi:10.1016/S1470-2045(11)70299-6Kalfusova A, Linke Z, Kalinova M, et al.Gastrointestinal stromal tumors - summary of mutational status of the primary/secondary KIT/PDGFRA mutations, BRAF mutations and SDH defects.Pathology Research and Practice.2019;215(12):152708. doi:10.1016/j.prp.2019.152708Menge F, Jakob J, Kasper B, et al.Clinical presentation of gastrointestinal stromal tumors.Visceral Medicine.2018;34:335-340. doi:10.1159/000494303Nishida T, Blay JY, Hirota S, et al.The standard diagnosis, treatment, and follow-up of gastrointestinal stromal tumors based on guidelines.Gastric Cancer. 2016;19(1):3-14. doi:10.1007/s10120-015-0526-8U.S. National Library of Medicine. Genetics Home Reference.KIT gene.
American Cancer Society.Targeted drug therapy for gastrointestinal stromal tumors.
Casali PG, Abecassis N, Aro HT, et al.Gastrointestinal stromal tumours: ESMO-EURACAN clinical practice guidelines for diagnosis, treatment and follow-up.Annals of Oncology.2018;29(Suppl 4):iv68-iv78. doi:10.1093/annonc/mdy095
Jakob J, Hohenberger P.Neoadjuvant therapy to downstage the extent of resection of gastrointestinal stromal tumors.Visceral Medicine. 2018;34(5):359-365. doi:10.1159/000493405
Joensuu H, Eriksson M, Hall KS, et al.One vs three tears of adjuvant imatinib for operable gastrointestinal stromal tumor a randomized trial.JAMA.2012;307(12):1265-1272. doi:10.1001/jama.2012.347
Joensuu H, Vehtari A, Riihimaki J.Risk of recurrence of gastrointestinal stromal tumour after surgery: an analysis of pooled population-based cohorts.Lancet.13(3):265-274. doi:10.1016/S1470-2045(11)70299-6
Kalfusova A, Linke Z, Kalinova M, et al.Gastrointestinal stromal tumors - summary of mutational status of the primary/secondary KIT/PDGFRA mutations, BRAF mutations and SDH defects.Pathology Research and Practice.2019;215(12):152708. doi:10.1016/j.prp.2019.152708
Menge F, Jakob J, Kasper B, et al.Clinical presentation of gastrointestinal stromal tumors.Visceral Medicine.2018;34:335-340. doi:10.1159/000494303
Nishida T, Blay JY, Hirota S, et al.The standard diagnosis, treatment, and follow-up of gastrointestinal stromal tumors based on guidelines.Gastric Cancer. 2016;19(1):3-14. doi:10.1007/s10120-015-0526-8
U.S. National Library of Medicine. Genetics Home Reference.KIT gene.
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