{"orpha":98838,"name":"Primary mediastinal large B-cell lymphoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Large cell lymphoma of the mediastinum","Med-DLBCL","Mediastinal diffuse large-cell lymphoma with sclerosis","Primary mediastinal clear cell lymphoma of B-cell type"],"definition":"A rare subtype of diffuse large B-cell lymphoma (DLBCL), arising from B cells of thymic origin, predominantly affecting women between the ages of 20-30, and that usually presents with a bulky and rapidly expanding anterior mediastinal mass, often with pleural and pericardial effusions, and that can invade the lungs, superior vena cava, pleura, pericardium, and chest wall, leading to manifestations of cough, dyspnea, and superior vena cava syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98838/","orphanet_url":"https://www.orpha.net/en/disease/detail/98838","names":{"fr":{"name":"Lymphome B médiastinal primitif à grandes cellules","synonyms":["Lymphome B à grandes cellules claires du médiastin","Lymphome diffus à grandes cellules du médiastin","Med-DLBCL"],"definition":"Sous-type rare de lymphome diffus à grandes cellules B (DLBCL), provenant de cellules B d'origine thymique, affectant principalement les femmes âgées de 20 à 30 ans. Il se présente généralement sous la forme d'une masse importante et en expansion rapide située dans la partie antérieure du médiastin. Il est souvent associé à des épanchements pleuraux et péricardiques et peut envahir les poumons, la veine cave supérieure, la plèvre, le péricarde et la paroi thoracique. Les signes cliniques qui en découlent sont une toux, une dyspnée et le syndrome de la veine cave supérieure."},"de":{"name":"B-Zell-Lymphom, großzelliges, primär mediastinales","synonyms":["Großzelliges Lymphom des Mediastinums","PMBCL"],"definition":"Ein seltener Subtyp des diffusen großzelligen B-Zell-Lymphoms (DLBCL), der von B-Zellen thymischen Ursprungs ausgeht, überwiegend Frauen im Alter von 20 bis 30 Jahren betrifft und sich in der Regel durch eine voluminöse und schnell wachsende Gewebeverdichtung im vorderen Mediastinum , oft mit Pleura- und Perikardergüssen, einhergeht und in die Lunge, die obere Hohlvene, die Pleura, das Perikard und die Brustwand eindringen kann, was zu Husten, Atemnot und einem Syndrom der oberen Hohlvene führt."},"es":{"name":"Linfoma mediastínico primario de células B grandes","synonyms":["LDCBG-Med","Linfoma de células grandes del mediastino","Linfoma difuso de células grandes del mediastino","Linfoma primario mediastinal de células claras tipo células B","Med-DLBCL"],"definition":"Es un subtipo poco frecuente de linfoma B difuso de células grandes (DLBCL) que se origina en las células B del timo y que afecta principalmente a mujeres entre los 20-30 años de edad. En general, se presenta con una masa mediastínica anterior voluminosa y de rápido crecimiento, a menudo acompañada de derrame pleural y pericárdico, que puede invadir los pulmones, la vena cava superior, la pleura, el pericardio y la pared torácica, derivando en las manifestaciones clínicas de tos, disnea y síndrome de la vena cava superior."},"it":{"name":"Linfoma primitivo del mediastino a grandi cellule B","synonyms":["Linfoma B primitivo del mediastino a cellule chiare","Linfoma del mediastino a grandi cellule","Linfoma diffuso del mediastino a grandi cellule con sclerosi","Med-DLBCL"],"definition":"Il linfoma primitivo del mediastino a grandi cellule B (PMBL) è un sottotipo raro di linfoma diffuso a grandi cellule B (DLBCL; si veda questo termine). Origina dalle cellule B del timo e colpisce soprattutto le donne di 20-30 anni. Di solito esordisce con una massa di grosse dimensioni che si espande rapidamente, nella porzione anteriore del mediastino; spesso si associa a versamenti pleurici e pericardici e può invadere i polmoni, la vena cava superiore, la pleura, il pericardio e la parete toracica. I segni clinici comprendono la tosse, la dispnea e la sindrome della vena cava superiore."},"nl":{"name":"Primair mediastinaal grootcellig B-cellymfoom","synonyms":["Grootcellig lymfoom van het mediastinum","Med-DLBCL","Mediastinaal diffuus grootcellig lymfoom met sclerose","Primair mediastinaal heldercellig lymfoom van het B-celtype"],"definition":"Een zeldzaam subtype van diffuus grootcellig B-cellymfoom (DLBCL), dat ontstaat uit B-cellen met een oorsprong in thymus, voornamelijk vrouwen tussen 20-30 jaar oud treft, zich meestal presenteert met een grote en snel uitbreidende massa in anterieur mediastinum, vaak met pleura- en pericardvocht, en kan binnendringen in long, bovenste holle ader, pleura, pericard en borstkaswand, wat leidt tot manifestaties als hoest, dyspneu en vena cava superior-syndroom."},"pt":{"name":"Linfoma de grandes células B do mediastino primário"},"pl":{"name":"Pierwotny chłoniak wielkokomórkowy śródpiersia z komórek B","synonyms":["Chłoniak wielkokomórkowy śródpiersia","Med-DLBCL","Pierwotny chłoniak jasnokomórkowy śródpiersia z komórek B","Rozlany chłoniak wielkokomórkowy śródpiersia ze sklerozą"],"definition":"Rzadki podtyp rozlanego chłoniaka z dużych komórek B (ang. diffuse large B-cell lymphoma; DLBCL), wywodzący się z limfocytów B pochodzących z grasicy, dotyczący głównie kobiet w wieku 20-30 lat, który zwykle objawia się obecnością masywnego i szybko powiększającego się guza w śródpiersiu przednim, często z wysiękiem w opłucnej i osierdziu, który może naciekać płuca, żyłę główną górną, opłucną, osierdzie i ścianę klatki piersiowej, powodując kaszel, duszność oraz zespół żyły głównej górnej."},"cs":{"name":"Primární velkobuněčný B-lymfom mediastina","synonyms":["Med-DLBCL","Velkobuněčný lymfom mediastina","Mediastinální difuzní velkobuněčný lymfom se sklerózou","Primární mediastinální jasnobuněčný lymfom z B buněk"]},"uk":{"name":"Первинна медіастинальна велика В-клітинна лімфома","synonyms":["Великоклітинна лімфома середостіння","Med-DLBCL","Медіастинальна дифузна великоклітинна лімфома зі склерозом","Первинна медіастинальна світлоклітинна лімфома В-клітинного типу"],"definition":"A rare subtype of diffuse large B-cell lymphoma (DLBCL), arising from B cells of thymic origin, predominantly affecting women between the ages of 20-30, and that usually presents with a bulky and rapidly expanding anterior mediastinal mass, often with pleural and pericardial effusions, and that can invade the lungs, superior vena cava, pleura, pericardium, and chest wall, leading to manifestations of cough, dyspnea, and superior vena cava syndrome."},"zh":{"name":"原发性纵隔大B细胞淋巴瘤","synonyms":["B细胞型原发性纵隔透明细胞淋巴瘤"],"definition":"原发性纵隔B细胞淋巴瘤(PMBL)是一种罕见的弥漫性大B细胞淋巴瘤(DLBCL)亚型，起源于胸腺的B细胞，主要影响20-30岁的女性，通常表现为巨大且迅速扩大的前纵隔肿块，常伴有胸膜和心包积液，可侵犯肺部、上腔静脉、胸膜、心包和胸壁，导致咳嗽、疼痛等症状。"},"tr":{"name":"Primer mediastinal büyük B hücreli lenfoma","synonyms":["Med-DLBCL","Mediyastende büyük hücreli lenfoma","Sklerozlu mediastinal yaygın büyük hücreli lenfoma","B hücre tipi primer mediastinal berrak hücreli lenfoma"]}},"xrefs":[{"source":"ICD-10","code":"C85.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A81.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"950282079"},{"source":"MONDO","code":"0020323","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1292754","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036710","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":544,"name":"Diffuse large B-cell lymphoma","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"XPO1","name":"exportin 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Assessed","source":"27312795[PMID]","hgnc":"12825","ensembl":"ENSG00000082898","omim":"602559","loci":["2p15"]},{"symbol":"BCL6","name":"BCL6 transcription repressor","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"17116487[PMID]","hgnc":"1001","ensembl":"ENSG00000113916","omim":"109565","loci":["3q27.3"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"}],"phenotypes":null}