{"orpha":569164,"name":"Angiomatoid fibrous histiocytoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AFH"],"definition":"A rare soft tissue tumor characterized by a slow-growing, usually painless, subcutaneous nodule, predominantly located in the extremities, less frequently the trunk or head and neck region. Histopathologically, the lesion is well-circumscribed, lobulated, and composed of epitheloid, ovoid, or spindle cells arranged in a nodular and often syncytial pattern, with pseudoangiomatoid spaces and a peripheral fibrous pseudocapsule with a prominent lymphoplasmacytic cuff. The tumor is most common in the first two decades of life and usually follows an indolent course, although local recurrence may occur, while metastasis is rare.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-569164/","orphanet_url":"https://www.orpha.net/en/disease/detail/569164","names":{"fr":{"name":"Histiocytome fibreux angiomatoïde","synonyms":["HFA"],"definition":"Tumeur rare des tissus mous caractérisée par un nodule sous-cutané à croissance lente, généralement indolore, situé principalement dans les membres, moins fréquemment dans le tronc ou la région de la tête et du cou. L'examen histopathologique révèle une lésion bien circonscrite, lobulée et composée de cellules épithéloïdes, ovoïdes ou fusiformes disposées selon un plan nodulaire et formant souvent en syncytium, avec des cavités pseudo-angiomatoïdes et une pseudo-capsule fibreuse périphérique avec une bordure lymphoplasmocytaire proéminente. La tumeur est plus fréquente dans les deux premières décennies de la vie et suit généralement une évolution indolente, bien qu'une récidive locale soit possible, tandis que les métastases sont rares."},"de":{"name":"Histiozytom, angiomatöses fibröses","synonyms":["AFH"],"definition":"Ein seltener Weichteiltumor, der durch ein langsam wachsendes, meist schmerzloses, subkutanes Knötchen gekennzeichnet ist, das sich vorwiegend an den Extremitäten, seltener am Rumpf oder im Kopf- und Halsbereich befindet. Histopathologisch ist die Läsion gut umschrieben, lobuliert und besteht aus epitheloiden, eiförmigen oder spindelförmigen Zellen, die in einem knotigen und oft synzytären Muster angeordnet sind, mit pseudoangiomatoiden Räumen und einer peripheren fibrösen Pseudokapsel mit einer auffälligen lymphoplasmazytischen Manschette. Der Tumor tritt am häufigsten in den ersten beiden Lebensjahrzehnten auf und hat in der Regel einen indolenten Verlauf, obwohl Lokalrezidive auftreten können, während Metastasen selten sind."},"es":{"name":"Histiocitoma fibroso angiomatoide","definition":"Es un tumor de tejidos blandos poco frecuente, caracterizado por un nódulo subcutáneo, por lo general indoloro, de crecimiento lento localizado predominantemente en las extremidades y, con menor frecuencia en el tronco o en la región de la cabeza y del cuello. Histopatológicamente, la lesión es lobulada y bien delimitada y está compuesta por células epitelioides, ovaladas o fusiformes dispuestas en un patrón nodular y, a menudo, sincitial, con espacios pseudo-angiomatoides y una pseudo-cápsula fibrosa periférica con un manguito linfoplasmocítico prominente. El tumor es más común en las dos primeras décadas de vida y, por lo general, sigue un curso indolente, aunque puede aparecer recidiva local, mientras que la metástasis es poco frecuente."},"it":{"name":"Istiocitoma angiomatoide fibroso","synonyms":["AFH"],"definition":"Si tratta di un tumore raro dei tessuti molli, caratterizzato da un nodulo sottocutaneo a crescita lenta, di solito indolore, localizzato prevalentemente sugli arti e, più raramente, sul tronco o nella regione della testa e del collo. Dal punto di vista istopatologico, la lesione è circoscritta, lobulata e composta da cellule epiteloidi, ovoidali o fusiformi, disposte secondo uno schema nodulare e spesso sinciziale, con spazi pseudoangiomatoidi e una pseudocapsula fibrosa periferica con un evidente bordo linfoplasmacitico. Il tumore è più comune nelle prime due decadi di vita e di solito ha un decorso silente; possono verificarsi recidive locali, mentre le metastasi sono rare."},"nl":{"name":"Angiomatoïde fibreus histiocytoom","synonyms":["AFH"],"definition":"Een zeldzame tumor van weke delen, gekarakteriseerd door een traag groeiende, meestal pijnloze, subcutane nodulus, hoofdzakelijk gelokaliseerd in ledematen, en minder vaak op de romp of ter hoogte van hoofd en hals. Histopathologisch is de laesie goed begrensd, gelobd, en opgebouwd uit epitheloïde, ovoïde, of spoelvormige cellen gerangschikt volgens een nodulair en vaak syncytieel patroon, met pseudo-angiomatoïde ruimtes en een perifeer fibreus pseudo-kapsel met een prominente lymfoplasmacytaire rand. De tumor komt het vaakst voor in de eerste twee levensdecennia, en volgt meestal een indolent verloop, hoewel lokaal recidief kan optreden, terwijl metastase maar zelden voorkomt."},"pt":{"name":"Histiocitoma fibroso angiomatoide"},"pl":{"name":"Naczyniak włóknistohistiocytarny/Angiomatoid fibrous histiocytoma","synonyms":["AFH"]},"cs":{"name":"Angiomatoidní fibrózní histiocytom","synonyms":["AFH"]},"uk":{"name":"Ангіоматоїдна фіброзна гістіоцитома","synonyms":["AFH"],"definition":"A rare soft tissue tumor characterized by a slow-growing, usually painless, subcutaneous nodule, predominantly located in the extremities, less frequently the trunk or head and neck region. Histopathologically, the lesion is well-circumscribed, lobulated, and composed of epitheloid, ovoid, or spindle cells arranged in a nodular and often syncytial pattern, with pseudoangiomatoid spaces and a peripheral fibrous pseudocapsule with a prominent lymphoplasmacytic cuff. The tumor is most common in the first two decades of life and usually follows an indolent course, although local recurrence may occur, while metastasis is rare."},"zh":{"name":"血管瘤样纤维组织细胞瘤","synonyms":["AFH"]},"tr":{"name":"Anjiyomatoid fibröz histiyositoma","synonyms":["AFH"]}},"xrefs":[{"source":"OMIM","code":"612160","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D21.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F7C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH9362","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"875428322"},{"source":"MONDO","code":"0012809","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563181","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1266127","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[{"symbol":"CREB1","name":"cAMP responsive element binding protein 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"28114920[PMID]","hgnc":"2345","ensembl":"ENSG00000118260","omim":"123810","loci":["2q33.3"]},{"symbol":"EWSR1","name":"EWS RNA binding protein 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"28114920[PMID]","hgnc":"3508","ensembl":"ENSG00000182944","omim":"133450","loci":["22q12.2"]}],"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":null}