{"orpha":213615,"name":"Rhabdomyosarcoma of the corpus uteri","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Rhabdomyosarcoma of the corpus uteri is an extremely rare, highly malignant soft tissue sarcoma located in the uterine body and arising from primitive mesenchymal cells displaying variable degrees of skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-213615/","orphanet_url":"https://www.orpha.net/en/disease/detail/213615","names":{"fr":{"name":"Rhabdomyosarcome du corps de l'utérus","definition":"Le rhabdomyosarcome du corps utérin est un sarcome extrêmement rare et hautement malin des tissus mous du corps utérin. Il provient de cellules mésenchymateuses primaires présentant divers degrés de différenciation en cellules de muscle squelettique. Il se manifeste le plus souvent par une perte vaginale anormale ou une modification des saignements utérins, une douleur abdominale et une masse dans le bas-ventre. Une association avec le syndrome DICER1 a été rapportée."},"de":{"name":"Rhabdomyosarkom des Corpus uteri","definition":"Das Rhabdomyosarkom des Corpus uteri ist ein extrem seltenes, hochmalignes Weichteilsarkom, das im Gebärmutterkörper lokalisiert ist und aus primitiven mesenchymalen Zellen entsteht, die einen variablen Grad der Skelettmuskeldifferenzierung aufweisen. Es präsentiert sich meist mit abnormalem vaginalem Ausfluss oder dysfunktionalen uterinen Blutungen, abdominalen Schmerzen und einer Unterbauchmasse. Es wurde über eine Assoziation mit dem DICER1-Syndrom berichtet."},"es":{"name":"Rabdomiosarcoma de cuerpo de útero","definition":"El rabdomiosarcoma del cuerpo uterino es un sarcoma de tejidos blandos, altamente maligno y extremadamente poco frecuente, localizado en el cuerpo uterino y que se origina en células mesenquimales primitivas mostrando grados variables de diferenciación de músculo esquelético. Con mayor frecuencia se presenta con flujo vaginal anómalo o sangrado uterino disfuncional, dolor abdominal y masa abdominal inferior. Se ha descrito asociación con el síndrome DICER1."},"it":{"name":"Rabdomiosarcoma del corpo uterino","definition":"Il rabdomiosarcoma del corpo uterino è un sarcoma del tessuto molle molto raro e altamente maligno; si localizza nel corpo uterino e origina dalle cellule mesenchimali primitive che presentano una differenziazione muscolare striata di grado variabile. Di solito esordisce con perdite vaginali anomale o emorragie uterine disfunzionali, dolore addominale e presenza di una massa localizzata nella parte inferiore dell'addome. Può associarsi alla sindrome DICER1."},"nl":{"name":"Rhabdomyosarcoom van corpus uteri","synonyms":["Rhabdomyosarcoom van baarmoederlichaam"],"definition":"Rhabdomyosarcoom van het baarmoederlichaam is een uiterst zeldzaam, zeer maligne wekedelensarcoom dat zich situeert in het baarmoederlichaam en ontstaat uit primitieve mesenchymale cellen die variabele gradaties van skeletspierdifferentiatie vertonen. In de meeste gevallen uit de ziekte zich met abnormale vaginale afscheiding of disfunctionele baarmoederbloeding, buikpijn en een gezwel in de onderbuik. Er werd associatie met DICER1-syndroom gerapporteerd."},"pt":{"name":"Rabdomiossarcoma do corpo uterino"},"pl":{"name":"Mięsak prążkowanokomórkowy trzonu macicy"},"cs":{"name":"Rhabdomyosarkom těla děložního"},"uk":{"name":"Рабдоміосаркома тіла матки","definition":"Rhabdomyosarcoma of the corpus uteri is an extremely rare, highly malignant soft tissue sarcoma located in the uterine body and arising from primitive mesenchymal cells displaying variable degrees of skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported."},"zh":{"name":"子宫体横纹肌肉瘤","definition":"子宫体横纹肌肉瘤是一种极罕见、高度恶性的软组织肉瘤，位于子宫体，起源于骨骼肌分化程度不同的原始间充质细胞。本病最常表现为异常阴道分泌物或功能失调性子宫出血、腹痛和下腹包块。曾报道与DICER1综合征相关。"},"tr":{"name":"Korpus uteri rabdomyosarkomu"}},"xrefs":[{"source":"ICD-10","code":"C54.2","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B55.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2120593283"},{"source":"MONDO","code":"0016260","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706451","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":213620,"name":"Sarcoma of the corpus uteri","classifications":[202,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}