{"orpha":213812,"name":"Primitive neuroectodermal tumor of the cervix uteri","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cervical malignant peripheral neuroectodermal tumor","Cervical peripheral neuroectodermal cancer","Malignant peripheral neuroectodermal tumor of the cervix uteri","Peripheral neuroectodermal cancer of cervix uteri"],"definition":"Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-213812/","orphanet_url":"https://www.orpha.net/en/disease/detail/213812","names":{"fr":{"name":"Tumeur neuroectodermique primitive du col de l'utérus","synonyms":["Cancer neuroectodermique périphérique cervical","Cancer neuroectodermique périphérique du col de l'utérus","Tumeur neuroectodermique périphérique maligne cervicale","Tumeur neuroectodermique périphérique maligne du col de l'utérus"],"definition":"Cancer rare du col de l'utérus dérivé des cellules de la crête neurale, composé, sur le plan histologique, de petites cellules néoplasiques rondes dont la différenciation neuronale, gliale et épendymaire est variable. Sur le plan macroscopique, la tumeur se présente souvent sous la forme d'une masse importante, molle, mal circonscrite, avec des bords infiltrants et des zones nécrotiques. Elle se manifeste par des saignements ou des pertes vaginales dysfonctionnelles, des douleurs dans la partie inférieure de l'abdomen et par une hypertrophie de l'utérus."},"de":{"name":"Primitiver neuroektodermaler Tumor der Cervix uteri","synonyms":["Maligner peripherer neuroektodermaler Tumor der Cervix uteri","Zervixkarzinom, neuroektodermales peripheres","Zervixtumor, maligner neuroektodermaler peripherer"],"definition":"Ein seltener Krebs der Zervix uteri, der sich von Neuralleistenzellen ableitet und histologisch aus kleinen, runden neoplastischen Zellen mit variablem Grad der neuralen, glialen und ependymalen Differenzierung besteht. Makroskopisch ist der Tumor oft eine große, weiche, schlecht umschriebene Masse mit infiltrativen Rändern und nekrotischen Bereichen. Er präsentiert sich mit dysfuntionellen vaginalen Blutungen oder Ausfluss, Unterbauchschmerzen und Uterusvergrößerung."},"es":{"name":"Tumor neuroectodérmico primitivo del cuello uterino","synonyms":["Cáncer neuroectodérmico periférico cervical","Cáncer neuroectodérmico periférico de cuello de útero","Tumor neuroectodérmico periférico maligno cervical"],"definition":"El tumor neuroectodérmico primitivo del cuello uterino, es un cáncer del cuello uterino poco frecuente que se origina en las células de la cresta neural. Histológicamente, se compone de células neoplásicas pequeñas y redondas con un grado variable de diferenciación neural, glial y ependimaria. Macroscópicamente, el tumor se presenta generalmente como una masa grande, blanda y mal circunscrita con bordes infiltrativos y áreas necróticas. Se manifiesta con hemorragia o secreción vaginal disfuncional, dolor abdominal inferior y agrandamiento del útero."},"it":{"name":"Tumore neuroectodermico primitivo della cervice uterina","synonyms":["Cancro cervicale neuroectodermico periferico","Cancro neuroectodermico periferico della cervice uterina","Tumore cervicale neuroectodermico periferico maligno"],"definition":"Il tumore neuroectodermico primitivo della cervice uterina è una neoplasia rara che origina dalle cellule della cresta neurale. Dal punto di vista istologico, è composto da piccole cellule neoplastiche arrotondate con differenziazione neurale, gliale ed ependimale di grado variabile. Dal punto di vista macroscopico, spesso si presenta come una grossa massa soffice, scarsamente circoscritta, con bordi infiltranti e aree necrotiche. Esordisce con emorragie vaginali disfunzionali o perdite, dolore nella parte inferiore dell'addome e aumento di volume dell'utero."},"nl":{"name":"Primitieve neuro-ectodermale tumor van cervix uteri","synonyms":["Cervicale maligne perifere neuro-ectodermale tumor","Cervicale perifere neuro-ectodermale kanker","Maligne perifere neuro-ectodermale tumor van cervix uteri","Perifere neuro-ectodermale kanker van cervix uteri","Primitieve neuro-ectodermale tumor van baarmoederhals"],"definition":"Primitieve neuro-ectodermale tumor van de cervix uteri is een zeldzame kanker van de baarmoederhals die is afgeleid van cellen van de neurale lijst, en die histologisch bestaat uit kleine, ronde neoplastische cellen met variabele gradaties van neurale, gliale en ependymale differentiatie. Macroscopisch is de tumor vaak een grote, zachte, vaag begrensde massa met infiltratieve grenzen en necrotische gebieden. Het presenteert zich met disfunctionele vaginale bloeding of afscheiding, pijn in de onderbuik en vergroting van de baarmoeder."},"pt":{"name":"Tumor maligno neuroectodérmico periférico do colo do útero"},"pl":{"name":"Niedojrzały guz neuroektodermalny szyjki macicy","synonyms":["Obwodowy rak neuroektodermalny szyjki","Obwodowy rak neuroektodermalny szyjki","Obwodowy rak neuroektodermalny szyjki macicy"],"definition":"*Niedojrzały guz neuroektodermalny szyjki macicy jest rzadkim nowotworem szyjki macicy, który wywodzi się z komórek grzebienia nerwowego, histologicznie zbudowany jest z małych, okrągłych komórek nowotworowych o różnym stopniu zróżnicowania w kierunku komórek nerwowych, glejowych i wyściółkowych. Makroskopowo guz jest często dużą, miękką, źle ograniczoną masą z naciekającymi brzegami i obszarami martwiczymi. Objawia się nieprawidłowym krwawieniem lub wydzieliną z pochwy, bólem w podbrzuszu i powiększeniem macicy."},"cs":{"name":"Zhoubný periferní neuroektodermální nádor hrdla děložního","synonyms":["Cervikální maligní periferní neuroektodermální nádor","Cervikální periferní neuroektodermální rakovina","Periferní neuroektodermální rakovina hrdla děložního"]},"uk":{"name":"Примітивна нейроектодермальна пухлина шийки матки","synonyms":["Злоякісна периферична нейроектодермальна пухлина шийки матки","Периферичний нейроектодермальний рак шийки матки","Злоякісна периферична нейроектодермальна пухлина шийки матки","Периферичний нейроектодермальний рак шийки матки"],"definition":"Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement."},"zh":{"name":"子宫颈原始神经外胚层肿瘤","synonyms":["子宫颈恶性外周神经外胚层癌"],"definition":"子宫颈原始神经外胚层肿瘤是一种罕见的宫颈癌，起源于神经嵴细胞，组织学上由小而圆的肿瘤细胞组成，具有不同程度的神经、胶质和室管膜分化程度。肉眼上通常表现为是一个大，软，边界不清的肿块伴边界浸润和坏死区域。本病表现为功能失调性阴道出血或分泌物，下腹痛和子宫增大。"},"tr":{"name":"Serviks uterinin ilkel nöroektodermal tümörü","synonyms":["Servikal periferik nöroektodermal kanser","Periferik nöroektodermal rahim ağzı kanseri","Servikal habis periferik nöroektodermal tümör","Serviks uteri'nin habis periferik nöroektodermal tümörü"]}},"xrefs":[{"source":"ICD-10","code":"C53.0","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C53.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C53.8","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B52.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1496131761"},{"source":"MONDO","code":"0016284","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707725","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":213797,"name":"Sarcoma of cervix uteri","classifications":[202,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21962148[PMID]"}],"phenotypes":null}