{"orpha":180229,"name":"Polyembryoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare malignant germ cell tumor characterized by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumor component. The tumor usually occurs as the dominant component of a mixed germ cell tumor, with teratoma being the most common associated element. It may manifest as an abdominal mass or with abdominal pain, menstrual irregularities, or precocious puberty in women, while men typically present with testicular enlargement. Serum alpha-fetoprotein and/or beta-human chorionic gonadotropin can be elevated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-180229/","orphanet_url":"https://www.orpha.net/en/disease/detail/180229","names":{"fr":{"name":"Polyembryome","definition":"Tumeur germinale maligne rare principalement composée de corps embryoïdes, consistant en un noyau central de cellules de carcinome embryonnaire, une cavité similaire à l'amnios et une composante à type de tumeur du sac vitellin. La tumeur fait généralement partie d'une tumeur germinale mixte. Elle en est la composante principale et est le plus souvent associée à un tératome. Elle peut se présenter sous la forme d'une masse abdominale ou de douleurs abdominales, de troubles menstruels ou d'une puberté précoce chez la femme, alors que l'homme présente généralement une hypertrophie testiculaire. Les taux sériques d'alpha-foetoprotéine et/ou de bêta-gonadotrophine chorionique humaine peuvent être élevés."},"de":{"name":"Polyembryom","definition":"Ein seltener maligner Keimzelltumor, der durch eine überwiegende Zusammensetzung von embryoiden Körpern gekennzeichnet ist, die aus einem zentralen Kern aus embryonalen Karzinomzellen, einer amnionartigen Höhle und einer Dottersacktumorkomponente bestehen. Der Tumor tritt in der Regel als dominante Komponente eines gemischten Keimzelltumors auf, wobei das Teratom das häufigste assoziierte Element ist. Er kann sich bei Frauen als Gewebeverdichtung oder mit Unterleibsschmerzen, Menstruationsunregelmäßigkeiten oder frühzeitiger Pubertät manifestieren, während Männer typischerweise eine Hodenvergrößerung aufweisen. Das Serum-Alpha-Fetoprotein und/oder das humane Beta-Chorion-Gonadotropin können erhöht sein."},"es":{"name":"Poliembrioma","definition":"Es un tumor de células germinales, maligno y poco frecuente, caracterizado por una composición predominante de cuerpos embrioides que constan de un núcleo central de células de carcinoma embrionario, una cavidad similar al amnios y un componente de tumor del saco vitelino. Por lo general, el tumor constituye el componente dominante de un tumor mixto de células germinales, siendo el teratoma el elemento asociado con mayor frecuencia. Puede manifestarse como una masa abdominal o con dolor abdominal, irregularidades menstruales o pubertad precoz en las mujeres, mientras que los varones suelen presentar aumento del tamaño testicular. Los niveles de alfa-fetoproteína y/o gonadotropina coriónica humana beta en suero pueden estar elevados."},"it":{"name":"Poliembrioma","definition":"Si tratta di un tumore maligno raro a cellule germinali, caratterizzato prevalentemente dalla presenza di corpi embrionali con un ''core'' centrale di cellule del carcinoma embrionale, una cavità simile all'amnios e una componente tumorale del sacco vitellino. Di solito il tumore si presenta come componente dominante di un tumore misto a cellule germinali, spesso associato ad un teratoma. La neoplasia può manifestarsi sotto forma di massa addominale o con dolore addominale, irregolarità del ciclo mestruale o pubertà precoce nelle femmine, mentre i maschi in genere presentano un ingrossamento dei testicoli. Può associarsi a livelli elevati di alfa-fetoproteina sierica e/o di beta-gonadotropina corionica umana."},"nl":{"name":"Polyembryoom","definition":"Een zeldzame maligne kiemceltumor, gekarakteriseerd door embryonale lichaampjes die hoofdzakelijk bestaan uit een centrale kern van embryonale carcinoomcellen, een amnion-achtige holte, en een component van dooierzaktumor. De tumor komt meestal voor als de dominante component van een gemengde kiemceltumor, meestal met teratoom als geassocieerd element. Het kan zich manifesteren als een abdominale massa of met abdominale pijn, menstruele onregelmatigheden, of vroegtijdige puberteit bij vrouwen, terwijl mannen zich doorgaans presenteren met vergroting van de testikels. Gehaltes van alfafoetoproteïne en/of bèta-humaan choriongonadotrofine in serum kunnen verhoogd zijn."},"pt":{"name":"Poliembrioma"},"pl":{"name":"Wielozarodkowiak"},"cs":{"name":"Polyembryom"},"uk":{"name":"Поліембріома","definition":"A rare malignant germ cell tumor characterized by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumor component. The tumor usually occurs as the dominant component of a mixed germ cell tumor, with teratoma being the most common associated element. It may manifest as an abdominal mass or with abdominal pain, menstrual irregularities, or precocious puberty in women, while men typically present with testicular enlargement. Serum alpha-fetoprotein and/or beta-human chorionic gonadotropin can be elevated."},"zh":{"name":"多胚瘤"},"tr":{"name":"Poliembriyom"}},"xrefs":[{"source":"ICD-10","code":"C80.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015863","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334518","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9621","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":99913,"name":"Extragonadal non-dysgerminomatous germ cell tumor","classifications":[202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"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]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-27","source":"24819795[PMID]_29065103[PMID]_73579[PMID]_28429716[PMID]_26389316[PMID]","terms":[{"hpo":"HP:0030338","label":"Abnormal circulating gonadotropin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010785","label":"Gonadal neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030061","label":"Neuroectodermal neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031500","label":"Abdominal mass","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045026","label":"Abnormal mediastinum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040231","label":"Abnormal onset of bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002585","label":"Abnormality of the peritoneum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006254","label":"Elevated alpha-fetoprotein","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012288","label":"Neoplasm of head and neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003144","label":"Increased serum serotonin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030088","label":"Increased serum testosterone level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008236","label":"Isosexual precocious puberty","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Very rare (<4-1%)","criteria":null}]}}