{"orpha":370396,"name":"Small cell carcinoma of the ovary","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCCO","Small cell ovarian carcinoma"],"definition":"Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370396/","orphanet_url":"https://www.orpha.net/en/disease/detail/370396","names":{"fr":{"name":"Carcinome à petites cellules de l'ovaire","synonyms":["Carcinome ovarien à petites cellules","SCCO"],"definition":"Tumeur ovarienne rare et très agressive, peu différenciée, souvent associée à une hypercalcémie paranéoplasique. Diagnostiquée généralement dans l'enfance ou chez le jeune adulte à un stade avancé, la tumeur se présente sous la forme d'une masse abdominale ou pelvienne ou, rarement, de symptômes liés à une hypercalcémie. Des rares cas familiaux ont été rapportés."},"de":{"name":"Ovarialkarzinom, kleinzelliges"},"es":{"name":"Carcinoma de células pequeñas del ovario","synonyms":["Carcinoma ovárico de células pequeñas","SCCO"],"definition":"El carcinoma de células pequeñas del ovario es una neoplasia ovárica poco diferenciada, altamente agresiva y poco frecuente, asociada, a menudo, a hipercalcemia paraneoplásica. Por lo general, se diagnostica en la infancia o en la edad adulta temprana en fase avanzada y se presenta con una masa abdominal o pélvica o, excepcionalmente, con síntomas relacionados con la hipercalcemia. Se han descrito casos familiares ocasionales."},"it":{"name":"Carcinoma dell'ovaio a piccole cellule","synonyms":["Carcinoma ovarico a piccolo cellule","SCCO"],"definition":"Il carcinoma dell'ovaio a piccole cellule è una neoplasia rara, scarsamente differenziata e molto aggressiva, spesso associata ad ipercalcemia paraneoplastica. Di solito la diagnosi viene posta durante l'infanzia o all'inizio della vita adulta, quando il tumore è in uno stadio avanzato. Esordisce con una massa addominale o pelvica, oppure, raramente, con sintomi correlati all'ipercalcemia. Sono stati documentati rari casi di familiarità."},"nl":{"name":"Kleincellig carcinoom van ovarium","synonyms":["Kleincellig carcinoom van eierstok","Kleincellig ovarieel carcinoom","SCCO"],"definition":"Kleincellig ovariumcarcinoom is een zeldzaam, zeer agressief, slecht gedifferentieerd neoplasma van de eierstokken dat vaak geassocieerd is met paraneoplastische hypercalciëmie. Het wordt meestal gediagnosticeerd tijdens de kindertijd of jonge volwassenheid in een vergevorderd stadium en manifesteert zich met een abdominale of pelviene massa of, in zeldzame gevallen, met symptomen gerelateerd aan hypercalciëmie. Occasioneel werden familiale gevallen gerapporteerd."},"pt":{"name":"Carcinoma de pequenas células do ovário"},"pl":{"name":"Drobnokomórkowy rak jajnika","synonyms":["SCCO"],"definition":"*Drobnokomórkowy rak jajnika jest rzadkim, bardzo agresywnym, słabo zróżnicowanym nowotworem jajnika, często związanym z hiperkalcemią paranowotworową. Zwykle rozpoznawany jest w zaawansowanym stadium u dzieci i młodych dorosłych, u których stwierdza się obecność masy w jamie brzusznej lub miednicy lub, rzadziej, objawy związane z hiperkalcemią. Okazjonalnie opisywano rodzinne występowanie choroby."},"cs":{"name":"Malobuněčný karcinom ovaria","synonyms":["SCCO"]},"uk":{"name":"Дрібноклітинна карцинома яєчника","synonyms":["SCCO","Дрібноклітинна карцинома яєчників"],"definition":"Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported."},"zh":{"name":"卵巢小细胞癌","synonyms":["小细胞卵巢癌"],"definition":"卵巢小细胞癌是一种罕见的高度侵袭性低分化卵巢肿瘤，常伴有副肿瘤性高钙血症。它通常在儿童或成年早期被诊断，诊断时疾病处于晚期，临床表现为腹部或盆腔肿块，很少出现与高钙血症有关的症状。本病偶有家族性病例报告。"},"tr":{"name":"Overin küçük hücreli karsinomu","synonyms":["SCCO","Küçük hücreli over karsinomu"]}},"xrefs":[{"source":"ICD-10","code":"C56","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C73.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0003795","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2212006","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10411","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":398940,"name":"Malignant non-epithelial tumor of ovary","classifications":[202,205]}],"children":[],"genes":[{"symbol":"SMARCA4","name":"SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24658002[PMID]_24658004[PMID]_24658001[PMID]","hgnc":"11100","ensembl":"ENSG00000127616","omim":"603254","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"29731803[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29731803[PMID]_ORPHANET"}],"phenotypes":null}