{"orpha":86897,"name":"Langerhans cell sarcoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare dendritic cell tumor characterized by an aggressive, high-grade neoplasm derived from Langerhans cells, most commonly extranodal and multifocal, involving the skin and underlying soft tissue, as well as lung, liver, spleen, and bone. Primary nodal involvement is seen in a minority of patients. Immune-phenotyping and the presence of Birbeck granules on ultrastructural examination reveal the Langerhans cell derivation of the neoplastic cells. Prognosis is generally poor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86897/","orphanet_url":"https://www.orpha.net/en/disease/detail/86897","names":{"fr":{"name":"Sarcome des cellules de Langerhans","definition":"Tumeur rare des cellules dendritiques caractérisée par un néoplasme agressif de haut grade dérivé des cellules de Langerhans, le plus souvent extranodal et multifocal, touchant la peau et les tissus mous sous-jacents, ainsi que les poumons, le foie, la rate et les os. L'atteinte ganglionnaire primaire est observée chez une minorité de patients. L'immunophénotypage et la présence de granules de Birbeck à l'examen ultrastructural révèlent la dérivation des cellules néoplasiques en cellules de Langerhans. Le pronostic est généralement réservé."},"de":{"name":"Langerhans-Zell-Sarkom","definition":"Ein seltener dendritischer Zelltumor, bei dem es sich um eine aggressive, hochgradige Neoplasie handelt, die von Langerhans-Zellen abstammt, meist extranodal und multifokal ist und die Haut und das darunter liegende Weichgewebe sowie Lunge, Leber, Milz und Knochen befällt. Ein primärer Lymphknotenbefall wird bei einer Minderheit der Patienten beobachtet. Die Immunphänotypisierung und das Vorhandensein von Birbeck-Granula in der ultrastrukturellen Untersuchung zeigen, dass die neoplastischen Zellen von Langerhanszellen abstammen. Die Prognose ist im Allgemeinen schlecht."},"es":{"name":"Sarcoma de células de Langerhans","definition":"Es un tumor de células dendríticas poco frecuente caracterizado por una neoplasia agresiva de alto grado derivada de células de Langerhans, con mayor frecuencia extraganglionar y multifocal, afectando a la piel y al tejido blando subyacente, así como al pulmón, al hígado, al bazo y a los huesos. La afectación ganglionar primaria se observa en una minoría de pacientes. El inmunofenotipado y la presencia de gránulos de Birbeck en el examen ultraestructural revelan la progresión de las células de Langerhans a células neoplásicas. Por lo general, el pronóstico es desfavorable."},"it":{"name":"Sarcoma a cellule di Langerhans","definition":"Si tratta di una neoplasia rara a cellule dendritiche caratterizzata da una neoplasia aggressiva ad alto grado, derivata dalle cellule di Langerhans, di solito con localizzazione extranodale e multifocale, che interessa la cute e i tessuti molli sottostanti, i polmoni, il fegato, la milza e lo scheletro. In un numero limitato di pazienti è presente all'esordio un coinvolgimento nodale. L'immunofenotipizzazione e la presenza dei granuli di Birbeck all'esame ultrastrutturale dimostrano che le cellule neoplastiche derivano dalle cellule di Langerhans. Di solito la prognosi è sfavorevole."},"nl":{"name":"Langerhanscelsarcoom","definition":"Een zeldzame tumor van dendritische cel, gekarakteriseerd door een agressief, hooggradig neoplasma afgeleid van Langerhanscellen, meestal extranodaal en multifocaal, met betrokkenheid van huid en onderliggende weke delen, alsook long, lever, milt, en bot. Primaire betrokkenheid van lymfeklieren wordt waargenomen bij een minderheid van de patiënten. Immunologische fenotypering en de aanwezigheid van Birbeck-korrels bij ultrastructureel onderzoek tonen dat de neoplastische cellen afgeleid zijn van Langerhanscellen. De prognose is doorgaans slecht."},"pt":{"name":"Sarcoma de células de Langerhans"},"pl":{"name":"Mięsak z komórek Langerhansa"},"cs":{"name":"Sarkom z Langerhansových buněk"},"uk":{"name":"Клітинна саркома Лангерганса","definition":"A rare dendritic cell tumor characterized by an aggressive, high-grade neoplasm derived from Langerhans cells, most commonly extranodal and multifocal, involving the skin and underlying soft tissue, as well as lung, liver, spleen, and bone. Primary nodal involvement is seen in a minority of patients. Immune-phenotyping and the presence of Birbeck granules on ultrastructural examination reveal the Langerhans cell derivation of the neoplastic cells. Prognosis is generally poor."},"zh":{"name":"朗格汉斯细胞肉瘤"},"tr":{"name":"Langerhans hücre sarkomu"}},"xrefs":[{"source":"ICD-10","code":"C96.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"2B31.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"588958190"},{"source":"MONDO","code":"0019480","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054752","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1260327","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10491","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078782","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98289,"name":"Dendritic cell tumor","classifications":[194,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[],"phenotypes":null}