{"orpha":178342,"name":"Inflammatory myofibroblastic tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178342/","orphanet_url":"https://www.orpha.net/en/disease/detail/178342","names":{"fr":{"name":"Tumeur myofibroblastique inflammatoire","definition":"Tumeur rare du stroma sous-muqueux, pouvant affecter tout organe, mais se développant souvent dans le poumon, le mésentère, l'épiploon et la région rétropéritonéale. Hétérogène sur le plan histologique, la tumeur est composée de cellules fusiformes, de myofibroblastes et de cellules inflammatoires. Elle est généralement bénigne, mais une invasion locale, une récidive, une évolution maligne avec invasion vasculaire et des métastases peuvent se produire. Les symptômes ne sont pas spécifiques et dépendent de l'organe concerné. Certains patients peuvent présenter un syndrome paranéoplasique (fièvre, malaise, perte de poids, anémie, thrombocytose) ou des symptômes liés à la compression des organes adjacents, tels que l'occlusion intestinale."},"de":{"name":"Tumor, inflammatorischer myofibroblastischer"},"es":{"name":"Tumor miofibroblástico inflamatorio","definition":"Es una lesión neoplásica poco frecuente del estroma submucoso que puede desarrollarse en cualquier órgano, presentándose frecuentemente en pulmón, mesenterio, omento y región retroperitoneal. Es histológicamente heterogéneo, compuesto por células fusiformes, miofibroblastos y células inflamatorias. Por lo general es benigno, aunque puede darse invasión local, recurrencia, transformación maligna con invasión vascular y metástasis. La presentación es inespecífica y depende del órgano afectado. Algunos afectados pueden presentar síndrome paraneoplásico (fiebre, malestar, pérdida de peso, anemia, trombocitosis) o síntomas relacionados con la compresión de órganos adyacentes, tales como obstrucción intestinal."},"it":{"name":"Tumore miofibroblastico infiammatorio","definition":"Il tumore miofibroblastico infiammatorio è una lesione neoplastica rara dello stroma della sottomucosa, che può svilupparsi in ogni organo, prediligendo i polmoni, il mesentere, l'omento e la regione retroperitoneale. Dal punto di vista istologico, si tratta di un tumore eterogeneo, composto da cellule fusiformi, miofibroblasti e cellule infiammatorie. Di solito è benigno, ma può complicarsi con disseminazione locale, recidive, trasformazione maligna con invasione vascolare e metastasi. Il quadro clinico d'esordio è aspecifico e dipende dall'organo interessato. Alcuni pazienti presentano una sindrome paraneoplastica (febbre, malessere, perdita di peso, anemia, trombocitosi), oppure segni clinici secondari alla compressione degli organi adiacenti, compresa l'ostruzione intestinale."},"nl":{"name":"Inflammatoire myofibroblastische tumor","definition":"Inflammatoire myofibroblastische tumor is een zeldzame neoplastische laesie van de submucosale stroma, die kan ontwikkelen in eender welk orgaan en vaak voorkomt in de long, het mesenterium, het omentum en het retroperitoneale gebied. Het is histologisch heterogeen, bestaande uit spoelvormige cellen, myofibroblasten en inflammatoire cellen. Het is doorgaans goedaardig, hoewel lokale invasie, terugkeer, maligne transformatie met vasculaire invasie en uitzaaiingen kunnen voorkomen. De presentatie is niet-specifiek en hangt af van het betrokken orgaan. Sommige patiënten vertonen mogelijk paraneoplastisch syndroom (koorts, malaise, gewichtsverlies, anemie, trombocytose) of symptomen gerelateerd aan compressie van aangrenzende organen, zoals darmobstructie."},"pt":{"name":"Tumor miofibroblástico inflamatório"},"pl":{"name":"Zapalny guz miofibroblastyczny"},"cs":{"name":"Inflamatorní myofibroblastický tumor"},"uk":{"name":"Запальна міофібробластична пухлина","definition":"Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction."},"zh":{"name":"炎性肌纤维母细胞瘤","definition":"炎性肌纤维母细胞瘤是一种罕见的黏膜下间质瘤，由梭形细胞、肌成纤维细胞和炎性细胞组成，呈异质性，一般为良性，但也可发生局部侵袭、复发、恶性转化或血管侵犯和转移，具体与累及的器官有关。该病可发生于任何器官，常发生于肺、肠系膜、网膜和腹膜后，部分患者可出现副肿瘤综合征（发热、不适、体重减轻、贫血、血小板增多）或邻近器官受压症状，如肠梗阻。"},"tr":{"name":"İnflamatuar miyofibroblastik tümör"}},"xrefs":[{"source":"ICD-10","code":"D48.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2E92.1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"477502352"},{"source":"ICD-11","code":"2F30.Y","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1771243201"},{"source":"MONDO","code":"0015798","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334121","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7146","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067917","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":71209,"name":"Rare soft tissue tumor","classifications":[202]}],"children":[],"genes":[{"symbol":"ALK","name":"ALK receptor tyrosine kinase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"17063337[PMID]","hgnc":"427","ensembl":"ENSG00000171094","omim":"105590","loci":["2p23.2-p23.1"]},{"symbol":"CARS1","name":"cysteinyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"13679433[PMID]_12112524[PMID]","hgnc":"1493","ensembl":"ENSG00000110619","omim":"123859","loci":["11p15.4"]},{"symbol":"CLTC","name":"clathrin heavy chain","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"17656252[PMID]","hgnc":"2092","ensembl":"ENSG00000141367","omim":"118955","loci":["17q23.1"]},{"symbol":"RANBP2","name":"RAN binding protein 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"12661011[PMID]","hgnc":"9848","ensembl":"ENSG00000153201","omim":"601181","loci":["2q13"]},{"symbol":"TPM3","name":"tropomyosin 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"17063337[PMID]","hgnc":"12012","ensembl":"ENSG00000143549","omim":"191030","loci":["1q21.3"]},{"symbol":"TPM4","name":"tropomyosin 4","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"10934142[PMID]","hgnc":"12013","ensembl":"ENSG00000167460","omim":"600317","loci":["19p13.12-p13.11"]}],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}