Gastrointestinal stromal tumor
Synonyms: GIST · Gastrointestinal stromal sarcoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gastrointestinal stromal tumor | GIST · Gastrointestinal stromal sarcoma |
| fr | Tumeur stromale gastro-intestinale | GIST · Sarcome stromal gastro-intestinal |
| de | Stroma-Tumor, gastrointestinaler | GIST · Gastrointestinales Stromasarkom |
| es | Tumor del estroma gastrointestinal | GIST · Sarcoma estromal gastrointestinal · Tumor estromal gastrointestinal |
| it | Tumore stromale gastrointestinale | GIST · Sarcoma stromale gastrointestinale |
| nl | Gastro-intestinale stromale tumor | GIST · Gastro-intestinaal stromaal sarcoom |
| pt | Tumor gastrointestinal do estroma | GIST · Sarcoma gastrointestinal do estroma |
| pl | Nowotwory podścieliskowe przewodu pokarmowego | GIST · Mięsaki podścieliskowe przewodu pokarmowego |
| cs | Gastrointestinální stromální tumor | GIST · Gastrointestinální stromální sarkom |
| uk | Стромальна пухлина шлунково-кишкового тракту | Шлунково-кишкова стромальна саркома · GIST |
| zh | 胃肠道间质肿瘤 | 胃肠道间质肿瘤 |
| tr | Gastrointestinal stromal tümör | GIST · Gastrointestinal stromal sarkom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175510 | BTNT | validated | |
| OMIM | 606764 | E | validated | |
| ICD-10 | C26.9 | NTBT | attributed | validated |
| ICD-11 | 2B5B | E | specific | validated |
| ICD-11 | XH9HQ1 | E | specific | validated |
| MONDO | 0011719 | E | validated | |
| MeSH | D046152 | E | validated | |
| UMLS | C0238198 | E | validated | |
| GARD | 8598 | E | validated | |
| MedDRA | 10051066 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:271835Genetic digestive tract tumor
rare genetic diseases - ORPHA:423798Mesenchymal tumor of small intestine
rare gastroenterological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SDHB | Candidate gene tested in | Not yet assessed | HGNC:10681 | ENSG00000117118 | 185470 | 1p36.13 | succinate dehydrogenase complex iron sulfur subunit B | 21173220[PMID] |
| SDHC | Candidate gene tested in | Not yet assessed | HGNC:10682 | ENSG00000143252 | 602413 | 1q23.3 | succinate dehydrogenase complex subunit C | 21173220[PMID] |
| KIT | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 11073817[PMID] |
| SDHA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10680 | ENSG00000073578 | 600857 | 5p15.33 | succinate dehydrogenase complex flavoprotein subunit A | 23730622[PMID]_23282968[PMID]_21505157[PMID]_21997697[PMID] |
| PDGFRA | Disease-causing germline mutation(s) in | Assessed | HGNC:8803 | ENSG00000134853 | 173490 | 4q12 | platelet derived growth factor receptor alpha | 33737510[PMID] |
| KIT | Disease-causing somatic mutation(s) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 23730622[PMID] |
| PDGFRA | Disease-causing somatic mutation(s) in | Assessed | HGNC:8803 | ENSG00000134853 | 173490 | 4q12 | platelet derived growth factor receptor alpha | 23730622[PMID] |
Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 13 / 100 000 | Europe | Value and class | Validated | European Medicines Agency[OTHER]_23623056[PMID] |
| Annual incidence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Not yet validated | 21420965[PMID]_23623056[PMID] |
| Annual incidence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Not yet validated | 23177515[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.9 / 100 000 | Korea, Republic of | Value and class | Not yet validated | 20514305[PMID] |
| Point prevalence | 1-5 / 10 000 | 14.5 / 100 000 | Hong Kong | Value and class | Not yet validated | 16610025[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.82 / 100 000 | Hong Kong | Value and class | Not yet validated | 16610025[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.5 / 100 000 | United States | Value and class | Not yet validated | 11213830[PMID]_23079473[PMID] |
| Point prevalence | 1-5 / 10 000 | 12.9 / 100 000 | Sweden | Value and class | Validated | 15648083[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100723 | Gastrointestinal stroma tumor | |
| HP:0006753 | Neoplasm of the stomach | |
| HP:0100242 | Sarcoma | |
| Frequent (79-30%) | ||
| HP:0002019 | Constipation | |
| HP:0002015 | Dysphagia | |
| HP:0012378 | Fatigue | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0005214 | Intestinal obstruction | |
| HP:0002017 | Nausea and vomiting | |
| Occasional (29-5%) | ||
| HP:0001392 | Abnormality of the liver | |
| HP:0001903 | Anemia | |
| HP:0100751 | Esophageal neoplasm | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0100273 | Neoplasm of the colon | |
| HP:0007378 | Neoplasm of the gastrointestinal tract | |
| HP:0100743 | Neoplasm of the rectum | |
| HP:0100833 | Neoplasm of the small intestine | |
| HP:0000988 | Skin rash | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/44890
- This record as JSON: /data/d/44890.json