{"orpha":466962,"name":"SMARCA4-deficient sarcoma of thorax","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SMARCA4-deficient thoracic sarcoma"],"definition":"A rare soft tissue tumor characterized by a compressive mass located in the mediastinum and/or pleura and lung, including prominent lymph node involvement, histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symptoms include dyspnea, cough, chest pain, or dysphagia, among others. The tumors are aggressive with limited response to chemotherapies, rapid local progression, high recurrence rate after surgical resection, and short median survival times. There is a strong association with smoking.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466962/","orphanet_url":"https://www.orpha.net/en/disease/detail/466962","names":{"fr":{"name":"Sarcome du thorax SMARCA4-déficient","synonyms":["Sarcome thoracique SMARCA4-déficient"],"definition":"Tumeur rare des tissus mous caractérisée par une masse située dans le médiastin et/ou la plèvre et le poumon, provoquant une compression, associée à une importante atteinte ganglionnaire, peu différenciée sur le plan histologique et présentant fréquemment des caractéristiques de tumeur rhabdoïde. La perte d'expression de SMARCA4 s'accompagne généralement d'une perte d'expression de SMARCA2. Parmi les symptômes initiaux figurent, entre autres : dyspnée, toux, douleurs thoraciques ou dysphagie. Il s'agit de tumeurs agressives dont la réponse aux chimiothérapies est limitée, la progression locale rapide, le taux de récidive après résection chirurgicale élevé et la durée de survie médiane courte. Une forte association avec le tabagisme est avérée."},"de":{"name":"Sarkom des Thorax bei SMARCA4-Mangel","synonyms":["Sarkom, thorakales, durch SMARCA4-Defizienz"],"definition":"Ein seltener Weichteiltumor, der durch eine komprimierende Gewebeverdichtung im Mediastinum und/oder im Rippenfell und in der Lunge gekennzeichnet ist, mit ausgeprägtem Lymphknotenbefall, der histologisch wenig differenziert ist und häufig rhabdoide Merkmale aufweist. Der Verlust von SMARCA4 wird in der Regel von SMARCA2-Defizienz begleitet. Zu den auftretenden Symptomen gehören unter anderem Dyspnoe, Husten, Brustschmerzen oder Dysphagie. Die Tumoren sind aggressiv, sprechen nur begrenzt auf Chemotherapien an, haben eine schnelle lokale Progression, eine hohe Rezidivrate nach chirurgischer Resektion und eine kurze mediane Überlebenszeit. Es besteht ein enger Zusammenhang mit dem Rauchen."},"es":{"name":"Sarcoma de tórax deficiente en SMARCA4","synonyms":["Sarcoma torácico deficiente en SMARCA4"],"definition":"Es un tumor de tejidos blandos poco frecuente caracterizado por una masa compresiva localizada en el mediastino y/o la pleura y el pulmón, que asocia una afectación ganglionar prominente, histológicamente poco diferenciada y que suele mostrar características rabdoides. La pérdida de SMARCA4 suele ir acompañada de una deficiencia de SMARCA2. Los síntomas de presentación incluyen disnea, tos, dolor torácico o disfagia, entre otros. Los tumores son agresivos con una respuesta limitada a la quimioterapia, una rápida progresión local, una elevada tasa de recidiva después de la resección quirúrgica y un tiempo de supervivencia corto. Se ha descrito una fuerte asociación con el tabaquismo."},"it":{"name":"Sarcoma del torace con deficit di SMARCA4","definition":"Si tratta di un tumore raro dei tessuti molli, caratterizzato da una massa compressiva localizzata nel mediastino e/o nella pleura e nel polmone, con un marcato interessamento dei linfonodi. Dal punto di vista istologico, il tumore è scarsamente differenziato e spesso presenta caratteristiche rabdoidi. La perdita di SMARCA4 in genere si associa al deficit di SMARCA2. I sintomi d'esordio comprendono la dispnea, la tosse, il dolore toracico e la disfagia. I tumori sono aggressivi, rispondono poco alla chemioterapia, hanno una progressione locale rapida e un tasso elevato di recidive dopo la resezione chirurgica. La sopravvivenza media è breve. È fortemente correlato al fumo."},"nl":{"name":"SMARCA4-deficiënt sarcoom van thorax","synonyms":["SMARCA4-deficiënt thoracaal sarcoom"],"definition":"Een zeldzame tumor van weke delen, gekarakteriseerd door een drukkende massa gesitueerd in mediastinum en/of pleura en long, prominente betrokkenheid van lymfeklieren, histologisch slecht gedifferentieerd, en vaak met rhabdoïde kenmerken. Verlies van SMARCA4 gaat doorgaans gepaard met SMARCA2-deficiëntie. Presenterende symptomen zijn onder meer dyspneu, hoest, pijn op borst, of dysfagie. De tumoren zijn agressief en worden gekenmerkt door beperkte respons op chemotherapie, snelle locale progressie, hoog recidiefpercentage na operatieve excisie, en korte mediane overleving. Er is een sterke associatie met roken."},"pt":{"name":"Sarcoma do tórax por défice de SMARCA4"},"pl":{"name":"Mięsak klatki piersiowej z deficytem SMARCA4","synonyms":["SMARCA4-deficient thoracic sarcoma"]},"cs":{"name":"SMARCA4 deficitní sarkom hrudníku","synonyms":["SMARCA4-deficient thoracic sarcoma","SMARCA4-deficientní hrudní sarkom"]},"uk":{"name":"SMARCA4-дефіцитна саркома грудної клітки","synonyms":["SMARCA4-дефіцитна саркома грудної клітки"],"definition":"A rare soft tissue tumor characterized by a compressive mass located in the mediastinum and/or pleura and lung, including prominent lymph node involvement, histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symptoms include dyspnea, cough, chest pain, or dysphagia, among others. The tumors are aggressive with limited response to chemotherapies, rapid local progression, high recurrence rate after surgical resection, and short median survival times. There is a strong association with smoking."},"zh":{"name":"SMARCA4相关胸部肉瘤","synonyms":["SMARCA4缺乏导致的胸肉瘤"]},"tr":{"name":"Toraksın SMARCA4-yetmezliğine bağlı sarkoması","synonyms":["SMARCA4-eksikliğine bağlı torasik sarkom"]}},"xrefs":[{"source":"ICD-10","code":"C49.3","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0018761","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5554190","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98060,"name":"Rare respiratory tumor","classifications":[184,202]},{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]}],"children":[],"genes":[{"symbol":"SMARCA4","name":"SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26343384[PMID]","hgnc":"11100","ensembl":"ENSG00000127616","omim":"603254","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26343384[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"26343384[PMID]"}],"phenotypes":null}