{"orpha":398987,"name":"Malignant teratoma of ovary","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Immature teratoma of ovary","Ovarian immature teratoma","Ovarian malignant teratoma"],"definition":"A rare ovarian germ cell tumor characterized by a unilateral large adnexal mass containing variable amounts of immature embryonal-type tissues (mostly in the form of neuroectodermal tubules and rosettes, sometimes with a component of cellular mitotically active glia), admixed with ectodermal and endodermal elements with varying degrees of maturation. Patients typically present in their first three decades of life with signs and symptoms related to mass effect. The tumor is often associated with the occurrence of innumerable miliary nodules of mature glia in the peritoneum (gliomatosis peritonei) and abdominal lymph nodes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-398987/","orphanet_url":"https://www.orpha.net/en/disease/detail/398987","names":{"fr":{"name":"Tératome malin de l'ovaire","synonyms":["Tératome immature de l'ovaire","Tératome ovarien immature","Tératome ovarien malin"],"definition":"Tumeur germinale ovarienne rare caractérisée par une masse annexielle unilatérale importante contenant des quantités variables de tissus immatures de type embryonnaire (principalement sous la forme de tubules et de rosettes neuroectodermiques, avec parfois une composante de cellules gliales mitotiquement actives), associés à des tissus ectodermiques et endodermiques de degrés variables de maturation. Les patients manifestent généralement des signes et des symptômes liés à l'effet de la tumeur dans les trois premières décennies de leur vie. La tumeur est souvent associée à la présence d'innombrables granulations miliaires composées de cellules gliales matures siégeant dans le péritoine (gliomatose péritonéale) et les ganglions lymphatiques abdominaux."},"de":{"name":"Malignes Teratom des Ovars","synonyms":["Teratom, malignes ovarielles","Unreifes Teratom des Ovars"],"definition":"Ein seltener ovarieller Keimzelltumor, der durch eine einseitige große adnexale Gewebeverdichtung gekennzeichnet ist, die unterschiedliche Mengen an unreifem embryonalem Gewebe enthält (meist in Form von neuroektodermalen Tubuli und Rosetten, manchmal mit einer Komponente zellulärer, mitotisch aktiver Glia), gemischt mit ektodermalen und endodermalen Elementen mit unterschiedlichem Reifegrad. Die Patienten stellen sich typischerweise in den ersten drei Lebensjahrzehnten mit Anzeichen und Symptomen vor, die auf eine Gewebeverdichtung hindeuten. Der Tumor geht häufig mit dem Auftreten unzähliger miliarer Knötchen aus reifen Glia im Bauchfell (Gliomatosis peritonei) und in den abdominalen Lymphknoten einher."},"es":{"name":"Teratoma maligno de ovario","synonyms":["Teratoma inmaduro de ovario","Teratoma ovárico inmaduro","Teratoma ovárico maligno"],"definition":"Es un tumor poco frecuente de células germinales de ovario caracterizado por una gran masa anexial unilateral que contiene cantidades variables de tejido de tipo embrionario inmaduro (principalmente en forma de túbulos y rosetas neuroectodérmicos, en ocasiones con un componente glial de células mitóticamente activas), mezclado con elementos ecto- y endodérmicos en diferentes grados de maduración. Los pacientes suelen presentarse en las primeras tres décadas de vida con signos y síntomas relacionados con el efecto masa. El tumor se suele asociar con la aparición de numerosos nódulos miliares de glía madura en el peritoneo (gliomatosis peritoneal) y en los ganglios linfáticos abdominales."},"it":{"name":"Teratoma maligno dell'ovaio","synonyms":["Teratoma immaturo dell'ovaio","Teratoma immaturo ovarico","Teratoma ovarico maligno"],"definition":"Si tratta di un tumore ovarico raro a cellule germinali, caratterizzato da una grande massa annessiale monolaterale contenente quantità variabili di tessuti immaturi di tipo embrionale (per lo più sotto forma di tubuli e rosette neuroectodermici, talvolta con una componente di cellule gliali mitoticamente attive), assieme ad elementi ectodermici ed endodermici con diversi gradi di maturazione. Di solito la malattia si manifesta nelle prime tre decadi di vita con sintomi secondari alla presenza di una massa. Spesso si associa a numerosi noduli simili a chicchi di miglio localizzati nella glia matura del peritoneo (gliomatosi peritoneale) e nei linfonodi addominali."},"nl":{"name":"Maligne teratoom van ovarium","synonyms":["Immatuur teratoom van eierstok","Kwaadaardig ovariumteratoom","Ovarieel immatuur teratoom"],"definition":"Een zeldzame kiemceltumor van ovarium, gekarakteriseerd door een unilaterale grote massa van adnex met een variabele hoeveelheid onrijpe weefsels van embryonaal type (meestal onder de vorm van neuro-ectodermale tubuli en rozetten, soms met een component van cellulair mitotisch actief glia), gemengd met ectodermale en endodermale elementen met variabele gradaties van maturatie. Patiënten presenteren zich doorgaans tijdens de eerste drie levensdecennia met verschijnselen en symptomen gerelateerd aan massa-effect. De tumor is vaak geassocieerd met het voorkomen van talrijke miliaire noduli van rijp glia in peritoneum (gliomatosis peritonei) en abdominale lymfeklieren."},"pt":{"name":"Teratoma maligno do ovário"},"pl":{"name":"Złośliwy potworniak jajnika","synonyms":["Niezróżnicowana teratoma jajników","Złośliwa teratoma jajników","Potworniak niedojrzały jajnika"]},"cs":{"name":"Maligní teratom vaječníku","synonyms":["Ovariální nezralý teratom","Ovariální maligní teratom","Nezralý teratom vaječníku"]},"uk":{"name":"Злоякісна тератома яєчника","synonyms":["Незріла тератома яєчника","Незріла тератома яєчника","Злоякісна тератома яєчника"],"definition":"A rare ovarian germ cell tumor characterized by a unilateral large adnexal mass containing variable amounts of immature embryonal-type tissues (mostly in the form of neuroectodermal tubules and rosettes, sometimes with a component of cellular mitotically active glia), admixed with ectodermal and endodermal elements with varying degrees of maturation. Patients typically present in their first three decades of life with signs and symptoms related to mass effect. The tumor is often associated with the occurrence of innumerable miliary nodules of mature glia in the peritoneum (gliomatosis peritonei) and abdominal lymph nodes."},"zh":{"name":"卵巢恶性畸胎瘤","synonyms":["卵巢恶性畸胎瘤"]},"tr":{"name":"Overin habis teratomu","synonyms":["Overde olgunlaşmamış teratom","Overde olgunlaşmamış teratom","Overde habis teratom"]}},"xrefs":[{"source":"ICD-10","code":"C56","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2C73.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"551209361"},{"source":"MONDO","code":"0018369","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0346182","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":398940,"name":"Malignant non-epithelial tumor of ovary","classifications":[202,205]}],"children":[],"genes":[{"symbol":"BMP15","name":"bone morphogenetic protein 15","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"38427603[PMID]","hgnc":"1068","ensembl":"ENSG00000130385","omim":"300247","loci":["Xp11.22"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.051,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.052,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.043,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.056,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.034,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.074,"area":"Estonia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.053,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.042,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.052,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.039,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.027,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.017,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.031,"area":"Malta","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.084,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.048,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.045,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.045,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.075,"area":"Slovenia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.063,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.084,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.082,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.056,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}