The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Neoplasm of the stomach | 90% |
| Sarcoma | 90% |
| Constipation | 50% |
| Feeding difficulties in infancy | 50% |
| Gastrointestinal hemorrhage | 50% |
| Intestinal obstruction | 50% |
| Nausea and vomiting | 50% |
| Abnormality of the liver | 7.5% |
| Anemia | 7.5% |
| Esophageal neoplasm | 7.5% |
| Irregular hyperpigmentation | 7.5% |
| Neoplasm of the colon | 7.5% |
| Neoplasm of the rectum | 7.5% |
| Neoplasm of the small intestine | 7.5% |
| Skin rash | 7.5% |
| Autosomal dominant inheritance | - |
| Dysphagia | - |
| Gastrointestinal stroma tumor | - |
| Hyperpigmentation of the skin | - |
| Large hands | - |
| Neurofibromas | - |
| Sporadic | - |
| Urticaria | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
For patients with primary, localized gastrointestinal stromal tumors, surgery with complete excision is the treatment of choice.[1] However, surgery has limited efficacy in the treatment of recurrent and metastatic gastrointestinal stromal tumors. These tumors are also resistant to both chemotherapy and radiotherapy. In the pre-imatinib era, the 5-year survival rate after the surgical resection of gastrointestinal stromal tumors was only 43%–80% as there was really no efficient method to cure the disease.[2] The addition of imatinib as part of the treatment of unresectable or recurrent gastrointestinal stromal tumors has improved the management of this condition and resulted in improved patient survival.[1][2]
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Rare Tumors Initiative Symposium Strategies to Develop Therapies for Rare Tumors: Small Numbers, but Big Opportunities
Wednesday, June 17, 2015
Location: NIH Natcher Conference Center,
Bethesda,
MD
Description: The goals of this symposium are to increase communication and build networks between researchers working in rare tumors across NIH, and to get input from patient groups, industry, and the FDA on how to overcome the biggest hurdles in the development of therapies for rare tumors. The Rare Tumors Initiative at NCI, CCR will use this information to prioritize goals for the future and will prepare a white paper summary to help guide researchers worldwide.
Contact: Dr. Karlyne Reilly,(301) 846-7518, reillyk@mail.nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
Overcoming Barriers to International Clinical Trials for Rare Cancers
Friday, December 10, 2010
Location:
Bethesda,
Maryland
Description: The goals of this conference were to introduce key institutional players to the topic of international clinical trials in rare cancers and to establish an ongoing dialogue. Participants left the meeting with a set of specific priorities that need to be enacted to promote these trials. The meeting promoted consensus on the way that resources are prioritized to address rare cancers. Participants were asked to convey the content of the meeting to their constituencies and to follow up with pilot concepts.
Contact: Jack Welch, M.D., Ph.D., jack.welch@nih.govjack.welch@nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
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I was recently diagnosed with a gastrointestinal stromal tumor. The tumor was surgically removed. My doctor gave me a 28% chance for recurrence. What information is available regarding recurrence risks for gastrointestinal stromal tumors? Where can I find studies which discuss these risks? See answer
