{"orpha":370348,"name":"Peripheral primitive neuroectodermal tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PPNET","Peripheral PNET","Peripheral neuroepithelioma"],"definition":"A rare, aggressive, malignant, neoplastic disease characterized by a usually ill-defined, solid, multilobulated mass, frequently having necrosis, located on any site of the body (except the central nervous system), composed of small, round, poorly differentiated cells, with or without Homer-Wright rosettes, showing varying degrees of neuroectodermal differentiation. Manifestations are variable depending on location, with osteolytic destruction being common when arising from bone.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370348/","orphanet_url":"https://www.orpha.net/en/disease/detail/370348","names":{"fr":{"name":"Tumeur neuroectodermique primitive périphérique","synonyms":["Neuroblastome périphérique","Neuroépithéliome périphérique"],"definition":"Maladie néoplasique rare, agressive et maligne, caractérisée par une masse généralement mal définie, solide, multilobulée, présentant fréquemment une nécrose, située à tout endroit du corps (à l'exception du système nerveux central), composée de petites cellules rondes, peu différenciées, avec ou sans rosettes de Homer-Wright, présentant une différenciation neuro-ectodermique de degré variable. Les manifestations varient en fonction de la localisation, l'ostéolyse étant fréquente dans des cas d'origine osseuse."},"de":{"name":"Peripherer primitiver neuroektodermaler Tumor","synonyms":["PPNET","Peripheres Neuroepitheliom","pPNET"],"definition":"Eine seltene, aggressive, maligne Neoplasie, die durch eine multilobuläre und meist schlecht definierte, oft nekrotische, feste Masse gekennzeichnet ist. Sie kann an jeder anatomischen Stelle (mit Ausnahme des Zentralnervensystems) auftreten und besteht aus kleinen, runden, wenig differenzierten Zellen mit oder ohne Homer-Wright-Rosetten, die einen unterschiedlichen Grad an neuroektodermaler Differenzierung aufweisen. Die Manifestationen unterscheiden sich je nach Lokalisation, wobei eine osteolytische Zerstörung häufig ist, wenn sie vom Knochen ausgeht."},"es":{"name":"Tumor neuroectodérmico primitivo periférico","synonyms":["Neuroepitelioma periférico","PNET periférico","PPNET","TNEP periférico"],"definition":"Es una enfermedad neoplásica maligna, agresiva y poco frecuente, caracterizada por una masa sólida multilobulada y por lo general poco definida, frecuentemente necrótica. Puede encontrarse en cualquier localización anatómica (a excepción del sistema nervioso central) y está compuesta de células pequeñas, redondas y poco diferenciadas, con o sin rosetas de Homer-Wright, que muestran grados variables de diferenciación neuroectodérmica. Las manifestaciones difieren según la localización, siendo frecuente la destrucción osteolítica cuando se origina a partir del hueso."},"it":{"name":"Tumore neuroectodermico primitivo periferico","synonyms":["PNET periferico","PPNET"],"definition":"È una neoplasia maligna rara e aggressiva, caratterizzata dalla presenza di una massa multilobulata solida, di solito scarsamente definita, che spesso presenta necrosi e può localizzarsi ovunque nel corpo (ad eccezione del sistema nervoso contrale), composta da piccole cellule rotonde scarsamente differenziate, con o senza rosette di Homer-Wright, con diversi gradi di differenziazione neuroectodermica. Il quadro clinico è variabile e dipende dalla localizzazione del tumore; la distruzione osteolitica è comune nei tumori che originano dall'osso."},"nl":{"name":"Perifere primitieve neuro-ectodermale tumor","synonyms":["PPNET","Perifeer neuro-epithelioom","Perifere PNET"],"definition":"Een zeldzame, agressieve, maligne, neoplastische ziekte gekarakteriseerd door een meestal onduidelijke, solide, meervoudig gelobde massa, frequent met necrose, eender waar op het lichaam gesitueerd (behalve het centrale zenuwstelsel), bestaande uit kleine, ronde, weinig gedifferentieerde cellen, met of zonder Homer-Wright-rozetten, en met variabele gradaties van neuro-ectodermale differentiatie. Manifestaties zijn variabel en afhankelijk van de locatie; zo is osteolytische destructie gangbaar wanneer het ontstaat uit bot."},"pt":{"name":"Tumor neuroectodérmico primitivo periférico"},"pl":{"name":"Obwodowy prymitywny guz neuroektodermalny","synonyms":["Obwodowy PNET","PPNET"]},"cs":{"name":"Periferní primitivní neuroektodermální nádor","synonyms":["PPNET","Periferní PNET"]},"uk":{"name":"Периферична примітивна нейроектодермальна пухлина","synonyms":["Периферична нейроепітеліома","Периферійна мережа PNET","PPNET"],"definition":"A rare, aggressive, malignant, neoplastic disease characterized by a usually ill-defined, solid, multilobulated mass, frequently having necrosis, located on any site of the body (except the central nervous system), composed of small, round, poorly differentiated cells, with or without Homer-Wright rosettes, showing varying degrees of neuroectodermal differentiation. Manifestations are variable depending on location, with osteolytic destruction being common when arising from bone."},"zh":{"name":"外周原始神经外胚层肿瘤","synonyms":["周围神经上皮瘤"],"definition":"本病是一种罕见侵袭性恶性肿瘤性疾病，其特征是通常界限不清的实性多分叶肿块，常有坏死，可位于身体的任何部位(中枢神经系统除外)，由小而圆的低分化细胞组成，可有或无 Homer-Wright假菊团结构，表现出不同程度的神经外胚层分化。本病的临床表现因部位不同而不同，起源于骨时常可见溶骨性破坏。"},"tr":{"name":"Periferik ilkel nöroektodermal tümör","synonyms":["PPNET","Periferal PNET","Periferik nöroepitelyom"]}},"xrefs":[{"source":"OMIM","code":"612219","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C71.9","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2B5F.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH6P76","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1742747256"},{"source":"MONDO","code":"0018271","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018241","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0684337","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2677,"name":"OBSOLETE: Neuroepithelioma","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":223727,"name":"Bone sarcoma","classifications":[199,202]},{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]}],"children":[],"genes":[{"symbol":"FLI1","name":"Fli-1 proto-oncogene, ETS transcription factor","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"7506981[PMID]_8644855[PMID]","hgnc":"3749","ensembl":"ENSG00000151702","omim":"193067","loci":["11q24.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-21","source":"28296680[PMID]_27613377[PMID]_30774687[PMID]_30538569[PMID]_30496933[PMID]_3037428[PMID]_29611053[PMID]","terms":[{"hpo":"HP:0030067","label":"Peripheral primitive neuroectodermal neoplasm","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001965","label":"Abnormality of the scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100711","label":"Abnormality of the thoracic spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030692","label":"Brain neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031030","label":"Elevated carcinoma antigen 125 level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100608","label":"Metrorrhagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031501","label":"Pelvic mass","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010302","label":"Spinal cord tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012513","label":"Upper limb pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010784","label":"Uterine neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011932","label":"Abnormality of the superior cerebellar peduncle","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006254","label":"Elevated alpha-fetoprotein","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100849","label":"Neoplasm of the scrotum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very rare (<4-1%)","criteria":null}]}}