{"orpha":44890,"name":"Gastrointestinal stromal tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GIST","Gastrointestinal stromal sarcoma"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-44890/","orphanet_url":"https://www.orpha.net/en/disease/detail/44890","names":{"fr":{"name":"Tumeur stromale gastro-intestinale","synonyms":["GIST","Sarcome stromal gastro-intestinal"],"definition":"La tumeur stromale gastro-intestinale (TSGI) est le néoplasme mésenchymateux des voies gastro-intestinales le plus fréquent. Elle se manifeste habituellement chez l'adulte de plus de 40 ans (âge moyen 63 ans), et rarement chez l'enfant. Elle implique plusieurs zones du tractus gastro-intestinal, le plus souvent l'estomac et l'intestin grêle, et plus rarement l'oesophage, l'appendice, le rectum et le colon. La tumeur peut être asymptomatique ou présenter divers signes non spécifiques en fonction de sa localisation et de sa taille, tels qu'une perte d'appétit, une anémie, une perte de poids, une fatigue, un inconfort ou une plénitude abdominale, des nausées, des vomissements, ainsi qu'une masse abdominale, la présence de sang dans les selles et une occlusion intestinale. Elle peut aussi se retrouver dans des symptômes familiaux tels que la triade de Carney et la neurofibromatose type 1."},"de":{"name":"Stroma-Tumor, gastrointestinaler","synonyms":["GIST","Gastrointestinales Stromasarkom"]},"es":{"name":"Tumor del estroma gastrointestinal","synonyms":["GIST","Sarcoma estromal gastrointestinal","Tumor estromal gastrointestinal"],"definition":"Es la neoplasia mesenquimatosa más frecuente del tracto gastrointestinal (GI), presentándose típicamente en adultos mayores de 40 años (edad media de 63 años) y muy infrecuentemente en niños, en varias regiones del tracto GI, más comúnmente en el estómago o el intestino delgado y, con menor frecuencia, en el esófago, el apéndice, el recto y el colon. Los GIST pueden ser asintomáticos o presentar diversos signos inespecíficos, según la ubicación y el tamaño del tumor, tales como pérdida de apetito, anemia, pérdida de peso, fatiga, malestar o plenitud abdominal, náuseas, vómitos, así como masa abdominal, sangre en heces, y obstrucción intestinal. Los GIST también se pueden observar en síndromes familiares tales como la tríada de Carney y la neurofibromatosis tipo 1."},"it":{"name":"Tumore stromale gastrointestinale","synonyms":["GIST","Sarcoma stromale gastrointestinale"],"definition":"Il tumore stromale gastrointestinale (GIST) è il tumore mesenchimale più comune del tratto gastrointestinale (GI); si manifesta di solito negli adulti dopo i 40 anni (età media 63 anni) e solo raramente nei bambini, localizzandosi in diverse aree del tratto GI, ma soprattutto a livello dello stomaco o dell'intestino tenue; più raramente si localizza nell'esofago, nell'appendice, nel retto e nel colon. Il GIST può essere asintomatico oppure esordire con diversi segni aspecifici, che dipendono dalla localizzazione e dalle dimensioni del tumore, come la perdita dell'appetito, l'anemia, la perdita di peso, l'affaticamento, la sensazione di fastidio o pienezza addominale, la nausea, il vomito, la presenza di una massa addominale e di sangue nelle feci e l'occlusione intestinale. Il GIST può essere presente anche in alcune sindromi familiari come la triade di Carney e la neurofibromatosi tipo 1."},"nl":{"name":"Gastro-intestinale stromale tumor","synonyms":["GIST","Gastro-intestinaal stromaal sarcoom"],"definition":"Gastro-intestinale stromale tumor (GIST) is het meest voorkomende mesenchymale neoplasma van het gastro-intestinale (GI) stelsel, en manifesteert zich doorgaans in volwassenen ouder dan 40 jaar (gemiddelde leeftijd van 63 jaar), maar slechts zelden in kinderen, in verscheidene regio's van het GI-stelsel, meestal de maag of de dunne darm, maar in mindere mate ook in de oesofagus, de appendix, het rectum en het colon. GIST's kunnen asymptomatisch zijn, of zich voordoen met verscheidene niet-specifieke tekenen, afhankelijk van de locatie en omvang van de tumor, zoals verlies van eetlust, anemie, gewichtsverlies, vermoeidheid, ongemakkelijk of opgeblazen gevoel in de buik, misselijkheid, braken, alsook een abdominale massa, bloed in de stoelgang, en darmobstructie. GIST's kunnen ook waargenomen worden bij familiale syndromen zoals triade van Carney en neurofibromatose type 1."},"pt":{"name":"Tumor gastrointestinal do estroma","synonyms":["GIST","Sarcoma gastrointestinal do estroma"]},"pl":{"name":"Nowotwory podścieliskowe przewodu pokarmowego","synonyms":["GIST","Mięsaki podścieliskowe przewodu pokarmowego"]},"cs":{"name":"Gastrointestinální stromální tumor","synonyms":["GIST","Gastrointestinální stromální sarkom"]},"uk":{"name":"Стромальна пухлина шлунково-кишкового тракту","synonyms":["Шлунково-кишкова стромальна саркома","GIST"],"definition":"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."},"zh":{"name":"胃肠道间质肿瘤","synonyms":["胃肠道间质肿瘤"]},"tr":{"name":"Gastrointestinal stromal tümör","synonyms":["GIST","Gastrointestinal stromal sarkom"]}},"xrefs":[{"source":"OMIM","code":"175510","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606764","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C26.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B5B","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"819644414"},{"source":"ICD-11","code":"XH9HQ1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2069696861"},{"source":"MONDO","code":"0011719","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D046152","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238198","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8598","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051066","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":271835,"name":"Genetic digestive tract tumor","classifications":[156]},{"orpha":423798,"name":"Mesenchymal tumor of small intestine","classifications":[152,202,233]}],"children":[],"genes":[{"symbol":"SDHB","name":"succinate dehydrogenase complex iron sulfur subunit B","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21173220[PMID]","hgnc":"10681","ensembl":"ENSG00000117118","omim":"185470","loci":["1p36.13"]},{"symbol":"SDHC","name":"succinate dehydrogenase complex subunit C","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21173220[PMID]","hgnc":"10682","ensembl":"ENSG00000143252","omim":"602413","loci":["1q23.3"]},{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"11073817[PMID]","hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"]},{"symbol":"SDHA","name":"succinate dehydrogenase complex flavoprotein subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23730622[PMID]_23282968[PMID]_21505157[PMID]_21997697[PMID]","hgnc":"10680","ensembl":"ENSG00000073578","omim":"600857","loci":["5p15.33"]},{"symbol":"PDGFRA","name":"platelet derived growth factor receptor alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33737510[PMID]","hgnc":"8803","ensembl":"ENSG00000134853","omim":"173490","loci":["4q12"]},{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23730622[PMID]","hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"]},{"symbol":"PDGFRA","name":"platelet derived growth factor receptor alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23730622[PMID]","hgnc":"8803","ensembl":"ENSG00000134853","omim":"173490","loci":["4q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":13.0,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]_23623056[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Not yet validated","source":"21420965[PMID]_23623056[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Not yet validated","source":"23177515[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Korea, Republic of","status":"Not yet validated","source":"20514305[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":14.5,"area":"Hong Kong","status":"Not yet validated","source":"16610025[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.82,"area":"Hong Kong","status":"Not yet validated","source":"16610025[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"United States","status":"Not yet validated","source":"11213830[PMID]_23079473[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":12.9,"area":"Sweden","status":"Validated","source":"15648083[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100723","label":"Gastrointestinal stroma tumor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006753","label":"Neoplasm of the stomach","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100242","label":"Sarcoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100751","label":"Esophageal neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100273","label":"Neoplasm of the colon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007378","label":"Neoplasm of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100743","label":"Neoplasm of the rectum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100833","label":"Neoplasm of the small intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null}]}}