{"orpha":83469,"name":"Desmoplastic small round cell tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DSRCT"],"definition":"An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83469/","orphanet_url":"https://www.orpha.net/en/disease/detail/83469","names":{"fr":{"name":"Tumeur desmoplastique à petites cellules","synonyms":["DSRCT","Tumeur desmoplastique à petites cellules rondes"],"definition":"La tumeur desmoplastique à petites cellules (TDPC) est un cancer agressif des tissus mous qui touche typiquement les séreuses du péritoine abdomino-pelvien, se propage à l'épiploon et aux ganglions lymphatiques et dissémine par voie hématogène principalement au foie. Une localisation primitive extra-séreuse, exceptionnelle, a été rapportée."},"de":{"name":"Rundzelltumor, desmoplastischer","synonyms":["DSRCT"],"definition":"Der Desmoplastische Rundzelltumor (DSRCT) ist ein kleinzelliger aggressiver Weichteilkrebs, der in typischen Fällen auf den serös begrenzten Oberflächen des Peritoneums im Abdomen und Becken entsteht. Er breitet sich in das Omentum und die Lymphknoten aus und streut hämatogen vor allem in die Leber. Primär extraseröse Lokalisation wurde als Ausnahme beschrieben."},"es":{"name":"Tumor desmoplásico de células pequeñas y redondas","synonyms":["DSRCT"],"definition":"Es un cáncer agresivo de tejidos blandos que se presenta típicamente en las superficies serosas del peritoneo pélvico o abdominal, se extiende al epiplón y a los ganglios linfáticos y se difunde por vía hematógena especialmente al hígado. La localización principal extraserosa se ha descrito en casos excepcionales."},"it":{"name":"Tumore desmoplastico a piccole cellule rotonde","synonyms":["DSRCT"]},"nl":{"name":"Desmoplastische klein- en rondcellige tumor","synonyms":["DSRCT"],"definition":"Een agressieve kanker van weke delen die doorgaans ontstaat in sereus beklede oppervlakken van het buikvlies in het abdomen of het bekken, en verspreidt naar omentum, lymfeklieren en via hematogene weg vooral naar de lever. In uitzonderlijke gevallen werd een extrasereuze primaire locatie gerapporteerd."},"pt":{"name":"Tumor de células pequenas redondas desmoplásicas","definition":"O tumor desmoplásico de células redondas pequenas (DSRCT) é um cancro agressivo de tecido mole que geralmente surge nas superfícies serosas revestidas do peritónio abdominal ou pélvico, e espalha-se ao omento, nódulos linfáticos e dissemina hematogeamente principalmente para o fígado. Localizacao primaria extra-serosa foi descrita em casos excepcionais."},"pl":{"name":"Desmoplastyczny guz drobnookrągłokomórkowy","synonyms":["DSRCT"]},"cs":{"name":"Desmoplastický kulatobuněčný tumor","synonyms":["DSRCT"]},"uk":{"name":"Десмопластична невелика круглоклітинна пухлина","synonyms":["DSRCT"],"definition":"An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases."},"zh":{"name":"结缔组织增生性小圆细胞肿瘤","synonyms":["DSRCT"]},"tr":{"name":"Desmoplastik küçük yuvarlak hücreli tümör","synonyms":["DSRCT"]}},"xrefs":[{"source":"ICD-10","code":"C48.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C53.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH5SN6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2009079266"},{"source":"MONDO","code":"0019373","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058405","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0281508","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6265","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064581","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":168807,"name":"Primary malignant peritoneal tumor","classifications":[182,202,233]},{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]}],"children":[],"genes":[{"symbol":"EWSR1","name":"EWS RNA binding protein 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"3508","ensembl":"ENSG00000182944","omim":"133450","loci":["22q12.2"]},{"symbol":"WT1","name":"WT1 transcription factor","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"12796","ensembl":"ENSG00000184937","omim":"607102","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"15557784[PMID]"},{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002585","label":"Abnormality of the peritoneum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100242","label":"Sarcoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002595","label":"Ileus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100721","label":"Mediastinal lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100006","label":"Neoplasm of the central nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010788","label":"Testicular neoplasm","frequency":"Occasional (29-5%)","criteria":null}]}}