{"orpha":163699,"name":"Alveolar soft tissue sarcoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ASPS","Alveolar soft part sarcoma"],"definition":"A rare soft tissue sarcoma characterized by a slowly growing, painless space-occupying lesion, composed of large, uniform, epithelioid cells arranged in solid nests and/or alveolar structures, separated by thin, sinusoidal vessels. The tumor mostly affects adolescents and young adults. Early metastasis, most commonly to the lung, bones, and brain, is a characteristic feature and relevant prognostic factor, together with age at presentation and tumor size, while histological features have no prognostic significance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163699/","orphanet_url":"https://www.orpha.net/en/disease/detail/163699","names":{"fr":{"name":"Sarcome alvéolaire des tissus mous","synonyms":["Sarcome alvéolaire des parties molles"],"definition":"Sarcome rare des tissus mous caractérisé par une lésion expansive et indolore, à croissance lente, composée de grandes cellules épithélioïdes uniformes sous forme de prolifération solide disposée en nids et/ou formant des structures alvéolaires, séparées par de fins vaisseaux sinusoïdaux. La tumeur touche principalement l'adolescent et le jeune adulte. L'apparition précoce de métastases, la plupart du temps dans les poumons, les os et le cerveau, est un signe caractéristique et un facteur pronostique essentiel, conjointement avec l'âge d'apparition et la taille de la tumeur, alors que les signes histologiques n'ont aucune valeur pronostique."},"de":{"name":"Weichteilsarkom, alveoläres","definition":"Ein seltenes Weichteilsarkom, das durch eine langsam wachsende, schmerzlose, raumfordernde Läsion gekennzeichnet ist, die aus großen, einheitlichen, epitheloiden Zellen besteht, die in soliden Nestern und/oder alveolären Strukturen angeordnet und durch dünne, sinusoidale Gefäße getrennt sind. Der Tumor befällt meist Jugendliche und junge Erwachsene. Eine frühe Metastasierung, am häufigsten in die Lunge, die Knochen und das Gehirn, ist ein charakteristisches Merkmal und ein relevanter prognostischer Faktor, zusammen mit dem Alter bei der Präsentation und der Tumorgröße, während histologische Merkmale keine prognostische Bedeutung haben."},"es":{"name":"Sarcoma alveolar de tejidos blandos","synonyms":["Sarcoma alveolar de partes blandas"],"definition":"Es un sarcoma de tejidos blandos poco frecuente caracterizado por una lesión ocupante de espacio, indolora, de crecimiento lento, compuesto por células epitelioides grandes y uniformes dispuestas en nidos sólidos y/o en estructuras alveolares, separadas por vasos finos y sinusoidales. El tumor afecta principalmente a adolescentes y a adultos jóvenes. La metástasis temprana, con mayor frecuencia pulmonar, ósea y cerebral, es un rasgo característico del tumor y un factor pronóstico relevante, junto con la edad de presentación y el tamaño del tumor, mientras que los hallazgos histológicos carecen de importancia pronóstica."},"it":{"name":"Sarcoma alveolare dei tessuti molli","synonyms":["Sarcoma alveolare delle parti molli"],"definition":"Si tratta di un sarcoma raro dei tessuti molli, caratterizzato da una lesione voluminosa indolore a crescita lenta, composta da cellule epitelioidi grandi e uniformi, organizzate in nidi solidi e/o in strutture alveolari, separate da vasi sinusoidali sottili. Colpisce prevalentemente gli adolescenti e i giovani adulti. Le metastasi precoci (per lo più ai polmoni, alle ossa e al cervello) sono un segno clinico caratteristico e un importante fattore prognostico, assieme all'età all'esordio e alle dimensioni del tumore, mentre le caratteristiche istologiche non hanno alcun valore prognostico."},"nl":{"name":"Alveolair wekedelensarcoom","definition":"Een zeldzaam wekedelensarcoom, gekarakteriseerd door een traaggroeiende, pijnloze, ruimte-innemende laesie, bestaande uit grote, uniforme, epithelioïde cellen die zijn gerangschikt in solide nesten en/of alveolaire structuren, en gescheiden door dunne sinusoïden. De tumor treft vooral adolescenten en jonge volwassenen. Vroege metastase, doorgaans naar long, bot en hersenen, is een typisch kenmerk en een relevante prognostische factor, samen met leeftijd bij presentatie en omvang van de tumor, terwijl histologische kenmerken prognostisch niet significant zijn."},"pt":{"name":"Sarcoma alveolar das partes moles"},"pl":{"name":"Mięsak pęcherzykowy tkanek miękkich","synonyms":["Mięsak pęcherzykowy części miękkich"]},"cs":{"name":"Alveolární sarkom měkkých tkání","synonyms":["ASPS","Alveolární sarkom měkkých částí"]},"uk":{"name":"Альвеолярна саркома мяких тканин","synonyms":["Саркома мякої частини альвеоли","ASPS"],"definition":"A rare soft tissue sarcoma characterized by a slowly growing, painless space-occupying lesion, composed of large, uniform, epithelioid cells arranged in solid nests and/or alveolar structures, separated by thin, sinusoidal vessels. The tumor mostly affects adolescents and young adults. Early metastasis, most commonly to the lung, bones, and brain, is a characteristic feature and relevant prognostic factor, together with age at presentation and tumor size, while histological features have no prognostic significance."},"zh":{"name":"肺泡状软组织肉瘤","synonyms":["泡状软组织肉瘤"],"definition":"一种罕见的软组织肉瘤，其特征是生长缓慢、无痛占位性病变，由排列在实心的巢状结构和/或蜂窝结构中的大且均匀的类上皮细胞组成，且被细小的窦状血管隔开。该肿瘤主要影响青少年和年轻人。早期转移（最常见于肺、骨和脑）是该疾病的典型特征，与患病年龄和肿瘤大小共同作为相关的预后因素，而组织学特征无预后意义。"},"tr":{"name":"Alveolar yumuşak doku sarkomu","synonyms":["ASPS","Alveolar yumuşak bölge sarkomu"]}},"xrefs":[{"source":"OMIM","code":"606243","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C49.9","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2B5F.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH8V95","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011655","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018234","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206657","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5654","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10001882","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]}],"children":[],"genes":[{"symbol":"ASPSCR1","name":"ASPSCR1 tether for SLC2A4, UBX domain containing","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"21279521[PMID]","hgnc":"13825","ensembl":"ENSG00000169696","omim":"606236","loci":["17q25.3"]},{"symbol":"TFE3","name":"transcription factor binding to IGHM enhancer 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"21279521[PMID]","hgnc":"11752","ensembl":"ENSG00000068323","omim":"314310","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[],"phenotypes":null}