{"orpha":590539,"name":"Isolated melanotic schwannoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated melanocytic schwannoma"],"definition":"A rare nervous system tumor characterized by cells phenotypically representing Schwann cells but containing melanosomes and expressing melanoma markers. The entity occurs as a non-psammomatous (typically affecting spinal nerves) or a psammomatous (also involving nerves of the intestinal tract and heart) variant. About 50% of psammomatous tumors are associated with Carney complex. Slightly over 10% of melanotic schwannomas follow a malignant course.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-590539/","orphanet_url":"https://www.orpha.net/en/disease/detail/590539","names":{"fr":{"name":"Schwannome mélanotique isolé","synonyms":["Schwannome mélanocytaire isolé"],"definition":"Tumeur rare du système nerveux, caractérisée par des cellules caractéristiques du phénotype des cellules de Schwann mais contenant des mélanosomes et exprimant des marqueurs de mélanome. Elle se manifeste sous la forme d'une variante non psammomateuse (affectant typiquement les nerfs spinaux) ou psammomateuse (affectant également les nerfs du tractus intestinal et du coeur). Environ 50 % des tumeurs psammomateuses sont associées au complexe de Carney. Dans un peu plus de 10 % des schwannomes mélanotiques l'évolution est maligne."},"de":{"name":"Schwannom, isoliertes melanotisches","synonyms":["Isoliertes melanozytäres Schwannom"],"definition":"Ein seltener Tumor des Nervensystems, der durch Zellen gekennzeichnet ist, die phänotypisch den Schwann-Zellen entsprechen, jedoch Melanosomen enthalten und Melanom-Marker exprimieren. Die Entität tritt als nicht-psammomatöse (typischerweise die Spinalnerven betreffend) oder als psammomatöse (auch Nerven des Darmtrakts und des Herzens betreffend) Variante auf. Etwa 50 % der psammomatösen Tumoren sind mit dem Carney-Komplex assoziiert. Etwas mehr als 10 % der melanotischen Schwannome nehmen einen malignen Verlauf."},"es":{"name":"Schwannoma melanótico aislado","synonyms":["Schwannoma melanocítico aislado"],"definition":"Es un tumor poco frecuente del sistema nervioso caracterizado por células que se asemejan fenotípicamente a las células de Schwann pero que contienen melanosomas y expresan marcadores de melanoma. La entidad se presenta como una variante no psammomatosa (que suele afectar a los nervios espinales) o psammomatosa (que también afecta a los nervios del tracto intestinal y del corazón). Alrededor del 50% de los tumores psammomatosos están asociados al complejo de Carney. Más del 10% de los schwannomas melanóticos sigue un curso maligno."},"it":{"name":"Schwannoma melanotico isolato","synonyms":["Schwannoma melanocitico isolato"],"definition":"Si tratta di una neoplasia rara del sistema nervoso, caratterizzata da cellule che a livello fenotipico appaiono come cellule di Schwann, ma che contengono melanosomi ed esprimono i marcatori del melanoma. Si presenta come una variante non psammomatosa (che in genere colpisce i nervi spinali) o psammomatosa (che interessa anche i nervi del tratto intestinale e del cuore). Circa il 50% dei tumori psammomatosi si associa al complesso di Carney. Poco più del 10% degli schwannomi melanotici ha un decorso maligno."},"nl":{"name":"Geïsoleerd melanotisch schwannoom","synonyms":["Geïsoleerd melanocytair schwannoom"],"definition":"Een zeldzame tumor van zenuwstelsel, gekenmerkt door cellen die fenotypisch Schwanncellen voorstellen, maar die melanosomen bevatten en merkers van melanoom tot expressie brengen. De entiteit komt voor als een niet-psammomateuze variant (die doorgaans spinale zenuwen aantast) of als een psammomateuze variant (die ook zenuwen van darmkanaal en hart aantast). Ongeveer 50% van de psammomateuze tumoren is geassocieerd met Carney-complex. Net iets meer dan 10% van de melanotische schwannomen kent een maligne verloop."},"pt":{"name":"Schwanoma melanótico isolado","synonyms":["Schwanoma melanocítico isolado"],"definition":"Tumor raro do sistema nervoso caracterizado por células que representam fenotipicamente as células de Schwann, mas contêm melanossomas e expressam marcadores de melanoma. A doença ocorre como uma variante não psamomatosa (geralmente afetando os nervos espinhais) ou psamomatosa (também envolvendo os nervos do trato intestinal e do coração). Cerca de 50% dos tumores psamomáticos estão associados ao complexo de Carney. Um pouco mais de 10% dos schwannomas melanóticos seguem um curso maligno."},"pl":{"name":"Barwnikowy nerwiak osłonkowy, izolowany","synonyms":["Isolated melanocytic schwannoma"]},"cs":{"name":"Izolovaný melanocytární schwannom","synonyms":["Isolated melanocytic schwannoma"]},"uk":{"name":"Ізольована меланотична шваннома","synonyms":["Ізольована меланоцитарна шваннома"],"definition":"A rare nervous system tumor characterized by cells phenotypically representing Schwann cells but containing melanosomes and expressing melanoma markers. The entity occurs as a non-psammomatous (typically affecting spinal nerves) or a psammomatous (also involving nerves of the intestinal tract and heart) variant. About 50% of psammomatous tumors are associated with Carney complex. Slightly over 10% of melanotic schwannomas follow a malignant course."},"zh":{"name":"Isolated melanotic schwannoma","synonyms":["Isolated melanocytic schwannoma"]},"tr":{"name":"Isolated melanotic schwannoma","synonyms":["Isolated melanocytic schwannoma"]}},"xrefs":[{"source":"ICD-10","code":"D36.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A02.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035136","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1306247","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":252131,"name":"Benign peripheral nerve sheath tumor","classifications":[181,202]},{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"33088497[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"33088497[PMID]"}],"phenotypes":null}